Linked Data
ClinVar Variation Id:
100504
ClinVar RCV Id:
RCV000086919
dbSNP Id:
rs61751312
ExAC:
12:6058296 G / A
gnomAD v2:
12-6058296-G-A
gnomAD v3:
12-5949130-G-A
gnomAD v4:
12-5949130-G-A
COSMIC:
COSM3384553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5949130G>A , CM000674.2:g.5949130G>A | GRCh38 |
| NC_000012.11:g.6058296G>A , CM000674.1:g.6058296G>A | GRCh37 |
| NC_000012.10:g.5928557G>A | NCBI36 |
| NG_009072.1:g.180541C>T | |
| NG_009072.2:g.180541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8327C>T MANE Select | ENSP00000261405.5:p.Pro2776Leu | |
| ENST00000261405.9:c.8327C>T | ENSP00000261405.5:p.Pro2776Leu | |
| NM_000552.3:c.8327C>T | NP_000543.2:p.Pro2776Leu | |
| NM_000552.4:c.8327C>T | NP_000543.2:p.Pro2776Leu | |
| NM_000552.5:c.8327C>T MANE Select | NP_000543.3:p.Pro2776Leu |