Linked Data
ClinVar Variation Id:
506862
ClinVar RCV Id:
RCV000603664
dbSNP Id:
rs762553028
ExAC:
2:240958001 C / T
gnomAD v2:
2-240958001-C-T
gnomAD v4:
2-240018584-C-T
COSMIC:
COSM4706118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240018584C>T , CM000664.2:g.240018584C>T | GRCh38 |
| NC_000002.11:g.240958001C>T , CM000664.1:g.240958001C>T | GRCh37 |
| NC_000002.10:g.240606674C>T | NCBI36 |
| NG_031855.1:g.11819G>A | |
| NG_031855.2:g.11819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.516G>A MANE Select | ENSP00000252711.2:p.Ala172= | |
| ENST00000414580.2:c.*62G>A | ENSP00000388413.2:n.*62G>A | |
| ENST00000444548.6:c.516G>A | ENSP00000403080.2:p.Ala172= | |
| ENST00000448880.6:c.516G>A | ENSP00000408224.2:p.Ala172= | |
| ENST00000476216.6:n.613G>A | ||
| ENST00000620965.5:c.516G>A | ENSP00000480897.2:p.Ala172= | |
| ENST00000676491.1:c.516G>A | ENSP00000504528.1:p.Ala172= | |
| ENST00000676782.1:c.516G>A | ENSP00000504717.1:p.Ala172= | |
| ENST00000676784.1:n.604G>A | ||
| ENST00000676929.1:c.516G>A | ENSP00000503956.1:p.Ala172= | |
| ENST00000677057.1:n.612G>A | ||
| ENST00000677114.1:c.516G>A | ENSP00000504818.1:p.Ala172= | |
| ENST00000677155.1:c.516G>A | ENSP00000502921.1:p.Ala172= | |
| ENST00000677263.1:c.516G>A | ENSP00000503790.1:p.Ala172= | |
| ENST00000677294.1:c.516G>A | ENSP00000503461.1:p.Ala172= | |
| ENST00000677368.1:c.516G>A | ENSP00000502983.1:p.Ala172= | |
| ENST00000677395.1:c.516G>A | ENSP00000502890.1:p.Ala172= | |
| ENST00000677407.1:c.516G>A | ENSP00000503141.1:p.Ala172= | |
| ENST00000677490.1:c.516G>A | ENSP00000503255.1:p.Ala172= | |
| ENST00000677567.1:c.516G>A | ENSP00000503217.1:p.Ala172= | |
| ENST00000677692.1:n.612G>A | ||
| ENST00000677764.1:c.516G>A | ENSP00000504547.1:p.Ala172= | |
| ENST00000677979.1:c.516G>A | ENSP00000503341.1:p.Ala172= | |
| ENST00000678158.1:c.516G>A | ENSP00000504765.1:p.Ala172= | |
| ENST00000678188.1:n.604G>A | ||
| ENST00000678289.1:c.516G>A | ENSP00000504063.1:p.Ala172= | |
| ENST00000678455.1:c.513G>A | ENSP00000504395.1:p.Ala171= | |
| ENST00000678468.1:c.516G>A | ENSP00000503925.1:p.Ala172= | |
| ENST00000678562.1:c.*309G>A | ENSP00000502954.1:n.*309G>A | |
| ENST00000678737.1:c.516G>A | ENSP00000503770.1:p.Ala172= | |
| ENST00000678832.1:c.*172G>A | ENSP00000502992.1:n.*172G>A | |
| ENST00000678898.1:n.612G>A | ||
| ENST00000678914.1:c.516G>A | ENSP00000504515.1:p.Ala172= | |
| ENST00000679158.1:c.516G>A | ENSP00000503837.1:p.Ala172= | |
| ENST00000679183.1:c.516G>A | ENSP00000503016.1:p.Ala172= | |
| ENST00000679308.1:c.516G>A | ENSP00000503148.1:p.Ala172= | |
| ENST00000679332.1:n.612G>A | ||
| ENST00000252711.6:c.516G>A | ENSP00000252711.2:p.Ala172= | |
| ENST00000307300.8:c.516G>A | ENSP00000302321.4:p.Ala172= | |
| ENST00000404554.5:c.516G>A | ENSP00000385697.1:p.Ala172= | |
| ENST00000407129.3:c.516G>A | ENSP00000383975.3:p.Ala172= | |
| ENST00000414580.1:c.*172G>A | ENSP00000388413.1:n.*172G>A | |
| ENST00000443626.5:c.516G>A | ENSP00000411527.1:p.Ala172= | |
| ENST00000485344.6:n.538G>A | ||
| ENST00000620965.4:c.516G>A | ENSP00000480897.1:p.Ala172= | |
| NM_004544.3:c.516G>A | NP_004535.1:p.Ala172= | |
| XM_006712543.1:c.516G>A | XP_006712606.1:p.Ala172= | |
| XM_011511228.1:c.516G>A | XP_011509530.1:p.Ala172= | |
| XM_011511229.1:c.516G>A | XP_011509531.1:p.Ala172= | |
| NM_001322019.1:c.516G>A | NP_001308948.1:p.Ala172= | |
| NM_001322020.1:c.516G>A | NP_001308949.1:p.Ala172= | |
| NR_136155.1:n.617G>A | ||
| NR_136156.1:n.617G>A | ||
| NR_136157.1:n.448G>A | ||
| NR_136158.1:n.617G>A | ||
| XM_011511228.3:c.516G>A | XP_011509530.1:p.Ala172= | |
| XR_001738750.2:n.558G>A | ||
| NM_004544.4:c.516G>A MANE Select | NP_004535.1:p.Ala172= | |
| NM_001322020.2:c.516G>A | NP_001308949.1:p.Ala172= | |
| NR_136155.2:n.557G>A | ||
| NR_136156.2:n.557G>A | ||
| NR_136157.2:n.388G>A | ||
| NR_136158.2:n.557G>A | ||
| NM_001322019.2:c.516G>A | NP_001308948.1:p.Ala172= |