Linked Data
dbSNP Id:
rs964603373
gnomAD v2:
2-197777618-G-A
gnomAD v3:
2-196912894-G-A
gnomAD v4:
2-196912894-G-A
COSMIC:
COSM3576000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.196912894G>A , CM000664.2:g.196912894G>A | GRCh38 |
| NC_000002.11:g.197777618G>A , CM000664.1:g.197777618G>A | GRCh37 |
| NC_000002.10:g.197485863G>A | NCBI36 |
| NG_046780.1:g.19102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354764.9:c.637C>T MANE Select | ENSP00000346809.3:p.Arg213Cys | |
| ENST00000354764.8:c.637C>T | ENSP00000346809.3:p.Arg213Cys | |
| ENST00000374738.3:c.147+13576C>T | ENSP00000363870.3:n.147+13576C>T | |
| ENST00000409188.5:c.511C>T | ENSP00000386802.1:p.Arg171Cys | |
| ENST00000409475.5:c.637C>T | ENSP00000387028.1:p.Arg213Cys | |
| ENST00000423035.5:c.*568C>T | ENSP00000415405.1:n.*568C>T | |
| ENST00000470179.5:n.271+13576C>T | ||
| ENST00000485830.1:n.781C>T | ||
| NM_024989.3:c.637C>T | NP_079265.2:p.Arg213Cys | |
| XM_011511878.1:c.637C>T | XP_011510180.1:p.Arg213Cys | |
| XM_011511879.1:c.115C>T | XP_011510181.1:p.Arg39Cys | |
| XM_011511880.1:c.637C>T | XP_011510182.1:p.Arg213Cys | |
| NM_001321099.1:c.115C>T | NP_001308028.1:p.Arg39Cys | |
| NM_001321100.1:c.-475C>T | NP_001308029.1:n.-475C>T | |
| XM_017004992.1:c.115C>T | XP_016860481.1:p.Arg39Cys | |
| XM_017004993.1:c.115C>T | XP_016860482.1:p.Arg39Cys | |
| XM_017004994.1:c.-475C>T | XP_016860483.1:n.-475C>T | |
| XM_024453156.1:c.-521C>T | XP_024308924.1:n.-521C>T | |
| XR_001738959.1:n.1016C>T | ||
| XR_001738960.1:n.1016C>T | ||
| NM_024989.4:c.637C>T MANE Select | NP_079265.2:p.Arg213Cys | |
| NM_001321099.2:c.115C>T | NP_001308028.1:p.Arg39Cys | |
| NM_001321100.2:c.-475C>T | NP_001308029.1:n.-475C>T |