Linked Data
ClinVar Variation Id:
2532250
ClinVar RCV Id:
RCV003281035
dbSNP Id:
rs761636189
ExAC:
8:94935782 C / T
gnomAD v2:
8-94935782-C-T
gnomAD v4:
8-93923554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923554C>T , CM000670.2:g.93923554C>T | GRCh38 |
| NC_000008.10:g.94935782C>T , CM000670.1:g.94935782C>T | GRCh37 |
| NC_000008.9:g.95004958C>T | NCBI36 |
| NG_012233.1:g.11621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.1495C>T MANE Select | ENSP00000297598.4:p.Arg499Cys | |
| ENST00000297598.4:c.1495C>T | ENSP00000297598.4:p.Arg499Cys | |
| ENST00000396200.3:c.1570C>T | ENSP00000379503.3:p.Arg524Cys | |
| ENST00000517764.1:c.1495C>T | ENSP00000430380.1:p.Arg499Cys | |
| ENST00000520728.5:c.1495C>T | ENSP00000428317.1:p.Arg499Cys | |
| NM_001161779.1:c.1570C>T | NP_001155251.1:p.Arg524Cys | |
| NM_001161780.1:c.1570C>T | NP_001155252.1:p.Arg524Cys | |
| NM_001161781.1:c.1495C>T | NP_001155253.1:p.Arg499Cys | |
| NM_018444.3:c.1495C>T | NP_060914.2:p.Arg499Cys | |
| XM_011517135.1:c.1549C>T | XP_011515437.1:p.Arg517Cys | |
| XM_011517136.1:c.1495C>T | XP_011515438.1:p.Arg499Cys | |
| XM_011517137.1:c.1495C>T | XP_011515439.1:p.Arg499Cys | |
| XM_011517135.2:c.1549C>T | XP_011515437.1:p.Arg517Cys | |
| XM_011517136.2:c.1495C>T | XP_011515438.1:p.Arg499Cys | |
| XM_017013588.1:c.1657C>T | XP_016869077.1:p.Arg553Cys | |
| NM_018444.4:c.1495C>T MANE Select | NP_060914.2:p.Arg499Cys | |
| NM_001161780.2:c.1570C>T | NP_001155252.1:p.Arg524Cys | |
| NM_001161781.2:c.1495C>T | NP_001155253.1:p.Arg499Cys | |
| NM_001161779.2:c.1570C>T | NP_001155251.1:p.Arg524Cys |