Linked Data
ClinVar Variation Id:
6521
ClinVar RCV Id:
RCV000006894
dbSNP Id:
rs121917862
ExAC:
12:91449415 G / T
gnomAD v2:
12-91449415-G-T
gnomAD v4:
12-91055638-G-T
PubMed:
PMID:11726611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055638G>T , CM000674.2:g.91055638G>T | GRCh38 |
| NC_000012.11:g.91449415G>T , CM000674.1:g.91449415G>T | GRCh37 |
| NC_000012.10:g.89973546G>T | NCBI36 |
| NG_021223.1:g.7717C>A , LRG_538:g.7717C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266719.4:c.644C>A MANE Select | ENSP00000266719.3:p.Thr215Lys | |
| ENST00000266719.3:c.644C>A | ENSP00000266719.3:p.Thr215Lys | |
| NM_007035.3:c.644C>A , LRG_538t1:c.644C>A | NP_008966.1:p.Thr215Lys | |
| XM_011537781.1:c.644C>A | XP_011536083.1:p.Thr215Lys | |
| NM_007035.4:c.644C>A MANE Select | NP_008966.1:p.Thr215Lys |