Linked Data
ClinVar Variation Id:
2533808
ClinVar RCV Id:
RCV004308380
dbSNP Id:
rs947195505
gnomAD v2:
12-91449505-C-T
gnomAD v4:
12-91055728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055728C>T , CM000674.2:g.91055728C>T | GRCh38 |
| NC_000012.11:g.91449505C>T , CM000674.1:g.91449505C>T | GRCh37 |
| NC_000012.10:g.89973636C>T | NCBI36 |
| NG_021223.1:g.7627G>A , LRG_538:g.7627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.554G>A MANE Select | ENSP00000266719.3:p.Arg185Lys | |
| ENST00000266719.3:c.554G>A | ENSP00000266719.3:p.Arg185Lys | |
| NM_007035.3:c.554G>A , LRG_538t1:c.554G>A | NP_008966.1:p.Arg185Lys | |
| XM_011537781.1:c.554G>A | XP_011536083.1:p.Arg185Lys | |
| NM_007035.4:c.554G>A MANE Select | NP_008966.1:p.Arg185Lys |