Linked Data
ClinVar Variation Id:
707507
ClinVar RCV Id:
RCV001520199
dbSNP Id:
rs201997144
ExAC:
9:95481579 G / A
gnomAD v2:
9-95481579-G-A
gnomAD v3:
9-92719297-G-A
gnomAD v4:
9-92719297-G-A
COSMIC:
COSM462370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719297G>A , CM000671.2:g.92719297G>A | GRCh38 |
| NC_000009.11:g.95481579G>A , CM000671.1:g.95481579G>A | GRCh37 |
| NC_000009.10:g.94521400G>A | NCBI36 |
| NG_033908.1:g.50505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1348C>T MANE Select | ENSP00000349351.6:p.Arg450Cys | |
| ENST00000356884.10:c.1348C>T | ENSP00000349351.6:p.Arg450Cys | |
| ENST00000375512.3:c.1348C>T | ENSP00000364662.3:p.Arg450Cys | |
| NM_001003800.1:c.1348C>T | NP_001003800.1:p.Arg450Cys | |
| NM_015250.3:c.1348C>T | NP_056065.1:p.Arg450Cys | |
| XM_017014551.1:c.1429C>T | XP_016870040.1:p.Arg477Cys | |
| NM_001003800.2:c.1348C>T MANE Select | NP_001003800.1:p.Arg450Cys | |
| NM_015250.4:c.1348C>T | NP_056065.1:p.Arg450Cys |