Linked Data
ClinVar Variation Id:
425021
dbSNP Id:
rs752689489
ExAC:
12:124197138 C / T
gnomAD v2:
12-124197138-C-T
gnomAD v3:
12-123712591-C-T
gnomAD v4:
12-123712591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123712591C>T , CM000674.2:g.123712591C>T | GRCh38 |
| NC_000012.11:g.124197138C>T , CM000674.1:g.124197138C>T | GRCh37 |
| NC_000012.10:g.122763091C>T | NCBI36 |
| NG_012743.1:g.5274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.26C>T MANE Select | ENSP00000332247.2:p.Thr9Ile | |
| ENST00000540368.6:n.57C>T | ||
| ENST00000613625.5:c.26C>T | ENSP00000482236.1:p.Thr9Ile | |
| ENST00000675344.1:c.26C>T | ENSP00000501953.1:p.Thr9Ile | |
| ENST00000676034.1:n.9C>T | ||
| ENST00000330342.7:c.26C>T | ENSP00000332247.2:p.Thr9Ile | |
| ENST00000540368.5:n.236C>T | ||
| ENST00000613625.4:c.26C>T | ENSP00000482236.1:p.Thr9Ile | |
| NM_012463.3:c.26C>T | NP_036595.2:p.Thr9Ile | |
| XM_005253563.1:c.26C>T | XP_005253620.1:p.Thr9Ile | |
| XR_429088.1:n.189C>T | ||
| XM_024448910.1:c.26C>T | XP_024304678.1:p.Thr9Ile | |
| NM_012463.4:c.26C>T MANE Select | NP_036595.2:p.Thr9Ile |