Linked Data
ClinVar Variation Id:
214704
ClinVar RCV Id:
RCV000198629
dbSNP Id:
rs200387097
ExAC:
2:240954203 C / G
gnomAD v2:
2-240954203-C-G
gnomAD v3:
2-240014786-C-G
gnomAD v4:
2-240014786-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240014786C>G , CM000664.2:g.240014786C>G | GRCh38 |
| NC_000002.11:g.240954203C>G , CM000664.1:g.240954203C>G | GRCh37 |
| NC_000002.10:g.240602876C>G | NCBI36 |
| NG_031855.1:g.15617G>C | |
| NG_031855.2:g.15617G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252711.7:c.622G>C MANE Select | ENSP00000252711.2:p.Asp208His | |
| ENST00000414580.2:c.*168G>C | ENSP00000388413.2:n.*168G>C | |
| ENST00000444548.6:c.622G>C | ENSP00000403080.2:p.Asp208His | |
| ENST00000448880.6:c.622G>C | ENSP00000408224.2:p.Asp208His | |
| ENST00000476216.6:n.719G>C | ||
| ENST00000620965.5:c.622G>C | ENSP00000480897.2:p.Asp208His | |
| ENST00000676491.1:c.622G>C | ENSP00000504528.1:p.Asp208His | |
| ENST00000676782.1:c.622G>C | ENSP00000504717.1:p.Asp208His | |
| ENST00000676784.1:n.708G>C | ||
| ENST00000676929.1:c.622G>C | ENSP00000503956.1:p.Asp208His | |
| ENST00000677057.1:n.718G>C | ||
| ENST00000677114.1:c.547+3767G>C | ENSP00000504818.1:n.547+3767G>C | |
| ENST00000677155.1:c.547+3767G>C | ENSP00000502921.1:n.547+3767G>C | |
| ENST00000677263.1:c.622G>C | ENSP00000503790.1:p.Asp208His | |
| ENST00000677294.1:c.622G>C | ENSP00000503461.1:p.Asp208His | |
| ENST00000677368.1:c.547+3767G>C | ENSP00000502983.1:n.547+3767G>C | |
| ENST00000677395.1:c.622G>C | ENSP00000502890.1:p.Asp208His | |
| ENST00000677407.1:c.622G>C | ENSP00000503141.1:p.Asp208His | |
| ENST00000677490.1:c.622G>C | ENSP00000503255.1:p.Asp208His | |
| ENST00000677567.1:c.622G>C | ENSP00000503217.1:p.Asp208His | |
| ENST00000677692.1:n.718G>C | ||
| ENST00000677764.1:c.622G>C | ENSP00000504547.1:p.Asp208His | |
| ENST00000677979.1:c.*101G>C | ENSP00000503341.1:n.*101G>C | |
| ENST00000678158.1:c.622G>C | ENSP00000504765.1:p.Asp208His | |
| ENST00000678188.1:n.801G>C | ||
| ENST00000678289.1:c.622G>C | ENSP00000504063.1:p.Asp208His | |
| ENST00000678455.1:c.619G>C | ENSP00000504395.1:p.Asp207His | |
| ENST00000678468.1:c.622G>C | ENSP00000503925.1:p.Asp208His | |
| ENST00000678562.1:c.*415G>C | ENSP00000502954.1:n.*415G>C | |
| ENST00000678737.1:c.622G>C | ENSP00000503770.1:p.Asp208His | |
| ENST00000678832.1:c.*278G>C | ENSP00000502992.1:n.*278G>C | |
| ENST00000678898.1:n.718G>C | ||
| ENST00000678914.1:c.567+55G>C | ENSP00000504515.1:n.567+55G>C | |
| ENST00000679158.1:c.622G>C | ENSP00000503837.1:p.Asp208His | |
| ENST00000679183.1:c.622G>C | ENSP00000503016.1:p.Asp208His | |
| ENST00000679308.1:c.622G>C | ENSP00000503148.1:p.Asp208His | |
| ENST00000679332.1:n.718G>C | ||
| ENST00000252711.6:c.622G>C | ENSP00000252711.2:p.Asp208His | |
| ENST00000307300.8:c.742G>C | ENSP00000302321.4:p.Asp248His | |
| ENST00000404554.5:c.622G>C | ENSP00000385697.1:p.Asp208His | |
| ENST00000443626.5:c.547+3767G>C | ENSP00000411527.1:n.547+3767G>C | |
| ENST00000485344.6:n.644G>C | ||
| ENST00000620965.4:c.622G>C | ENSP00000480897.1:p.Asp208His | |
| NM_004544.3:c.622G>C | NP_004535.1:p.Asp208His | |
| XM_006712543.1:c.622G>C | XP_006712606.1:p.Asp208His | |
| XM_011511228.1:c.622G>C | XP_011509530.1:p.Asp208His | |
| XM_011511229.1:c.622G>C | XP_011509531.1:p.Asp208His | |
| NM_001322019.1:c.622G>C | NP_001308948.1:p.Asp208His | |
| NM_001322020.1:c.622G>C | NP_001308949.1:p.Asp208His | |
| NR_136155.1:n.723G>C | ||
| NR_136156.1:n.723G>C | ||
| NR_136157.1:n.554G>C | ||
| NR_136158.1:n.723G>C | ||
| XM_011511228.3:c.622G>C | XP_011509530.1:p.Asp208His | |
| XR_001738750.2:n.664G>C | ||
| NM_004544.4:c.622G>C MANE Select | NP_004535.1:p.Asp208His | |
| NM_001322020.2:c.622G>C | NP_001308949.1:p.Asp208His | |
| NR_136155.2:n.663G>C | ||
| NR_136156.2:n.663G>C | ||
| NR_136157.2:n.494G>C | ||
| NR_136158.2:n.663G>C | ||
| NM_001322019.2:c.622G>C | NP_001308948.1:p.Asp208His |