Linked Data
ClinVar Variation Id:
56002
ClinVar RCV Id:
RCV000049411
dbSNP Id:
rs386833483
gnomAD v3:
7-107791210-C-T
gnomAD v4:
7-107791210-C-T
COSMIC:
COSM126230
PubMed:
PMID:21394828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107791210C>T , CM000669.2:g.107791210C>T | GRCh38 |
| NC_000007.13:g.107431655C>T , CM000669.1:g.107431655C>T | GRCh37 |
| NC_000007.12:g.107218891C>T | NCBI36 |
| NG_008046.1:g.17024G>A , LRG_683:g.17024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.408G>A MANE Select | ENSP00000345873.5:p.Met136Ile | |
| ENST00000340010.9:c.408G>A | ENSP00000345873.5:p.Met136Ile | |
| ENST00000379083.7:c.*199G>A | ENSP00000368375.3:n.*199G>A | |
| NM_000111.2:c.408G>A , LRG_683t1:c.408G>A | NP_000102.1:p.Met136Ile | |
| XM_011515867.1:c.408G>A | XP_011514169.1:p.Met136Ile | |
| NM_000111.3:c.408G>A MANE Select | NP_000102.1:p.Met136Ile |