Linked Data
ClinVar Variation Id:
6522
ClinVar RCV Id:
RCV000006895
dbSNP Id:
rs121917863
ExAC:
12:91445245 G / A
gnomAD v2:
12-91445245-G-A
gnomAD v3:
12-91051468-G-A
gnomAD v4:
12-91051468-G-A
COSMIC:
COSM6387235
PubMed:
PMID:15370545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91051468G>A , CM000674.2:g.91051468G>A | GRCh38 |
| NC_000012.11:g.91445245G>A , CM000674.1:g.91445245G>A | GRCh37 |
| NC_000012.10:g.89969376G>A | NCBI36 |
| NG_021223.1:g.11887C>T , LRG_538:g.11887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.937C>T MANE Select | ENSP00000266719.3:p.Arg313Ter | |
| ENST00000266719.3:c.937C>T | ENSP00000266719.3:p.Arg313Ter | |
| NM_007035.3:c.937C>T , LRG_538t1:c.937C>T | NP_008966.1:p.Arg313Ter | |
| XM_011537781.1:c.937C>T | XP_011536083.1:p.Arg313Ter | |
| NM_007035.4:c.937C>T MANE Select | NP_008966.1:p.Arg313Ter |