Linked Data
ClinVar Variation Id:
2251676
ClinVar RCV Id:
RCV004107416
dbSNP Id:
rs778900492
gnomAD v2:
15-42363396-G-A
gnomAD v3:
15-42071198-G-A
gnomAD v4:
15-42071198-G-A
COSMIC:
COSM961658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42071198G>A , CM000677.2:g.42071198G>A | GRCh38 |
| NC_000015.9:g.42363396G>A , CM000677.1:g.42363396G>A | GRCh37 |
| NC_000015.8:g.40150688G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.1801C>T MANE Select | ENSP00000290472.3:p.Arg601Cys | |
| ENST00000290472.3:c.1801C>T | ENSP00000290472.3:p.Arg601Cys | |
| ENST00000560932.1:n.333C>T | ||
| NM_178034.3:c.1801C>T | NP_828848.3:p.Arg601Cys | |
| XM_011521467.1:c.1633C>T | XP_011519769.1:p.Arg545Cys | |
| XR_931798.1:n.1901C>T | ||
| XM_011521467.2:c.1633C>T | XP_011519769.1:p.Arg545Cys | |
| XR_931798.2:n.1901C>T | ||
| NM_178034.4:c.1801C>T MANE Select | NP_828848.3:p.Arg601Cys |