Linked Data
ClinVar Variation Id:
50796
ClinVar RCV Id:
RCV000043577
dbSNP Id:
rs397514697
ExAC:
2:74072313 T / A
gnomAD v2:
2-74072313-T-A
gnomAD v3:
2-73845186-T-A
gnomAD v4:
2-73845186-T-A
PubMed:
PMID:23542699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73845186T>A , CM000664.2:g.73845186T>A | GRCh38 |
| NC_000002.11:g.74072313T>A , CM000664.1:g.74072313T>A | GRCh37 |
| NC_000002.10:g.73925821T>A | NCBI36 |
| NG_033223.1:g.21271T>A | |
| NG_033223.2:g.21276T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394073.6:c.299T>A | ENSP00000377636.1:p.Phe100Tyr | |
| ENST00000409707.6:c.299T>A | ENSP00000386548.1:p.Phe100Tyr | |
| ENST00000424659.6:c.290T>A | ENSP00000390921.2:p.Phe97Tyr | |
| ENST00000432295.7:c.299T>A | ENSP00000413874.3:p.Phe100Tyr | |
| ENST00000452725.6:n.794T>A | ||
| ENST00000478946.2:c.*60T>A | ENSP00000508259.1:n.*60T>A | |
| ENST00000486458.2:n.717T>A | ||
| ENST00000536064.2:c.299T>A | ENSP00000443502.2:p.Phe100Tyr | |
| ENST00000682105.1:c.*60T>A | ENSP00000507182.1:n.*60T>A | |
| ENST00000682157.1:c.299T>A | ENSP00000507848.1:p.Phe100Tyr | |
| ENST00000682329.1:n.368T>A | ||
| ENST00000682351.1:c.299T>A | ENSP00000506833.1:p.Phe100Tyr | |
| ENST00000682352.1:c.299T>A | ENSP00000508197.1:p.Phe100Tyr | |
| ENST00000682379.1:c.299T>A | ENSP00000507081.1:p.Phe100Tyr | |
| ENST00000682387.1:c.299T>A | ENSP00000508186.1:p.Phe100Tyr | |
| ENST00000682423.1:c.299T>A | ENSP00000507643.1:p.Phe100Tyr | |
| ENST00000682558.1:c.299T>A | ENSP00000507014.1:p.Phe100Tyr | |
| ENST00000682592.1:c.*235T>A | ENSP00000508170.1:n.*235T>A | |
| ENST00000682683.1:n.368T>A | ||
| ENST00000682747.1:n.794T>A | ||
| ENST00000682784.1:c.*60T>A | ENSP00000507523.1:n.*60T>A | |
| ENST00000682799.1:c.299T>A | ENSP00000507089.1:p.Phe100Tyr | |
| ENST00000682847.1:c.299T>A | ENSP00000507864.1:p.Phe100Tyr | |
| ENST00000682848.1:c.299T>A | ENSP00000506775.1:p.Phe100Tyr | |
| ENST00000682851.1:c.-107T>A | ENSP00000507371.1:n.-107T>A | |
| ENST00000682998.1:c.299T>A | ENSP00000507046.1:p.Phe100Tyr | |
| ENST00000683016.1:c.*235T>A | ENSP00000508373.1:n.*235T>A | |
| ENST00000683027.1:n.501T>A | ||
| ENST00000683036.1:c.299T>A | ENSP00000507639.1:p.Phe100Tyr | |
| ENST00000683149.1:c.299T>A | ENSP00000507540.1:p.Phe100Tyr | |
| ENST00000683205.1:n.833T>A | ||
| ENST00000683247.1:c.299T>A | ENSP00000507237.1:p.Phe100Tyr | |
| ENST00000683304.1:c.299T>A | ENSP00000508114.1:p.Phe100Tyr | |
| ENST00000683314.1:n.423T>A | ||
| ENST00000683317.1:c.299T>A | ENSP00000507092.1:p.Phe100Tyr | |
| ENST00000683349.1:c.299T>A | ENSP00000507807.1:p.Phe100Tyr | |
| ENST00000683391.1:c.290T>A | ENSP00000506772.1:p.Phe97Tyr | |
| ENST00000683417.1:c.299T>A | ENSP00000507770.1:p.Phe100Tyr | |
| ENST00000683434.1:c.299T>A | ENSP00000507622.1:p.Phe100Tyr | |
| ENST00000683465.1:n.1122T>A | ||
| ENST00000683518.1:c.299T>A | ENSP00000506865.1:p.Phe100Tyr | |
| ENST00000683530.1:c.299T>A | ENSP00000506920.1:p.Phe100Tyr | |
| ENST00000683582.1:c.*60T>A | ENSP00000506892.1:n.*60T>A | |
| ENST00000683594.1:c.*60T>A | ENSP00000507459.1:n.*60T>A | |
| ENST00000683718.1:c.*60T>A | ENSP00000507037.1:n.*60T>A | |
| ENST00000683728.1:c.*60T>A | ENSP00000507079.1:n.*60T>A | |
| ENST00000683818.1:c.299T>A | ENSP00000507658.1:p.Phe100Tyr | |
| ENST00000683852.1:c.299T>A | ENSP00000507717.1:p.Phe100Tyr | |
| ENST00000683877.1:c.299T>A | ENSP00000507446.1:p.Phe100Tyr | |
| ENST00000683902.1:c.290T>A | ENSP00000507096.1:p.Phe97Tyr | |
| ENST00000683928.1:c.299T>A | ENSP00000507241.1:p.Phe100Tyr | |
| ENST00000684095.1:c.299T>A | ENSP00000506845.1:p.Phe100Tyr | |
| ENST00000684174.1:n.1117T>A | ||
| ENST00000684200.1:c.*235T>A | ENSP00000507468.1:n.*235T>A | |
| ENST00000684312.1:c.299T>A | ENSP00000506958.1:p.Phe100Tyr | |
| ENST00000684321.1:c.299T>A | ENSP00000507156.1:p.Phe100Tyr | |
| ENST00000684337.1:c.*60T>A | ENSP00000508310.1:n.*60T>A | |
| ENST00000684355.1:c.299T>A | ENSP00000507974.1:p.Phe100Tyr | |
| ENST00000684426.1:c.*60T>A | ENSP00000507614.1:n.*60T>A | |
| ENST00000684585.1:c.299T>A | ENSP00000507054.1:p.Phe100Tyr | |
| ENST00000684671.1:c.*1646T>A | ENSP00000507882.1:n.*1646T>A | |
| ENST00000684697.1:c.299T>A | ENSP00000506855.1:p.Phe100Tyr | |
| ENST00000684703.1:c.*60T>A | ENSP00000507569.1:n.*60T>A | |
| ENST00000684716.1:c.299T>A | ENSP00000508172.1:p.Phe100Tyr | |
| ENST00000684758.1:c.*235T>A | ENSP00000507279.1:n.*235T>A | |
| ENST00000684774.1:c.*60T>A | ENSP00000508267.1:n.*60T>A | |
| ENST00000394070.7:c.299T>A MANE Select | ENSP00000377633.2:p.Phe100Tyr | |
| ENST00000339566.7:c.299T>A | ENSP00000344742.3:p.Phe100Tyr | |
| ENST00000394070.6:c.299T>A | ENSP00000377633.2:p.Phe100Tyr | |
| ENST00000394073.5:c.299T>A | ENSP00000377636.1:p.Phe100Tyr | |
| ENST00000409707.5:c.299T>A | ENSP00000386548.1:p.Phe100Tyr | |
| ENST00000424659.5:c.299T>A | ENSP00000390921.1:p.Phe100Tyr | |
| ENST00000432295.6:c.299T>A | ENSP00000413874.2:p.Phe100Tyr | |
| ENST00000452725.5:c.299T>A | ENSP00000413291.1:p.Phe100Tyr | |
| ENST00000478946.1:n.423T>A | ||
| ENST00000536064.1:c.299T>A | ENSP00000443502.1:p.Phe100Tyr | |
| NM_006463.4:c.299T>A | NP_006454.1:p.Phe100Tyr | |
| NM_201647.2:c.299T>A | NP_964010.1:p.Phe100Tyr | |
| NM_213622.2:c.299T>A | NP_998787.1:p.Phe100Tyr | |
| XM_005264088.2:c.299T>A | XP_005264145.1:p.Phe100Tyr | |
| XM_005264091.2:c.-107T>A | XP_005264148.1:n.-107T>A | |
| XM_011532483.1:c.299T>A | XP_011530785.1:p.Phe100Tyr | |
| XM_011532484.1:c.299T>A | XP_011530786.1:p.Phe100Tyr | |
| XM_011532485.1:c.299T>A | XP_011530787.1:p.Phe100Tyr | |
| XR_939651.1:n.417T>A | ||
| XR_940245.1:n.1651-199A>T | ||
| NM_001353967.1:c.299T>A | NP_001340896.1:p.Phe100Tyr | |
| NM_001353968.1:c.299T>A | NP_001340897.1:p.Phe100Tyr | |
| NM_001353969.1:c.299T>A | NP_001340898.1:p.Phe100Tyr | |
| NM_001353970.1:c.299T>A | NP_001340899.1:p.Phe100Tyr | |
| NM_001353971.1:c.-107T>A | NP_001340900.1:n.-107T>A | |
| NM_001353972.1:c.-107T>A | NP_001340901.1:n.-107T>A | |
| NM_001353973.1:c.-107T>A | NP_001340902.1:n.-107T>A | |
| NM_001353974.1:c.-107T>A | NP_001340903.1:n.-107T>A | |
| NM_001353975.1:c.-107T>A | NP_001340904.1:n.-107T>A | |
| NM_001353976.1:c.-107T>A | NP_001340905.1:n.-107T>A | |
| NM_006463.5:c.299T>A | NP_006454.1:p.Phe100Tyr | |
| NM_201647.3:c.299T>A | NP_964010.1:p.Phe100Tyr | |
| NM_213622.3:c.299T>A | NP_998787.1:p.Phe100Tyr | |
| NR_148668.1:n.397T>A | ||
| NR_148669.1:n.397T>A | ||
| NR_148670.1:n.521T>A | ||
| NR_148671.1:n.855T>A | ||
| XM_011532483.3:c.299T>A | XP_011530785.1:p.Phe100Tyr | |
| XM_011532485.3:c.299T>A | XP_011530787.1:p.Phe100Tyr | |
| XM_024452533.1:c.299T>A | XP_024308301.1:p.Phe100Tyr | |
| XM_024452534.1:c.-107T>A | XP_024308302.1:n.-107T>A | |
| NM_213622.4:c.299T>A MANE Select | NP_998787.1:p.Phe100Tyr | |
| NR_148668.2:n.347T>A | ||
| NR_148669.2:n.347T>A | ||
| NR_148670.2:n.527T>A | ||
| NR_148671.2:n.861T>A | ||
| NM_001353967.2:c.299T>A | NP_001340896.1:p.Phe100Tyr | |
| NM_001353968.2:c.299T>A | NP_001340897.1:p.Phe100Tyr | |
| NM_001353969.2:c.299T>A | NP_001340898.1:p.Phe100Tyr | |
| NM_001353970.2:c.299T>A | NP_001340899.1:p.Phe100Tyr | |
| NM_001353971.2:c.-107T>A | NP_001340900.1:n.-107T>A | |
| NM_001353972.2:c.-107T>A | NP_001340901.1:n.-107T>A | |
| NM_001353973.2:c.-107T>A | NP_001340902.1:n.-107T>A | |
| NM_001353974.2:c.-107T>A | NP_001340903.1:n.-107T>A | |
| NM_001353975.2:c.-107T>A | NP_001340904.1:n.-107T>A | |
| NM_001353976.2:c.-107T>A | NP_001340905.1:n.-107T>A | |
| NM_006463.6:c.299T>A | NP_006454.1:p.Phe100Tyr | |
| NM_201647.4:c.299T>A | NP_964010.1:p.Phe100Tyr |