Linked Data
ClinVar Variation Id:
66142
ClinVar RCV Id:
RCV000056443
dbSNP Id:
rs267607418
ExAC:
12:53345576 C / T
gnomAD v2:
12-53345576-C-T
gnomAD v3:
12-52951792-C-T
gnomAD v4:
12-52951792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52951792C>T , CM000674.2:g.52951792C>T | GRCh38 |
| NC_000012.11:g.53345576C>T , CM000674.1:g.53345576C>T | GRCh37 |
| NC_000012.10:g.51631843C>T | NCBI36 |
| NG_008351.1:g.7922C>T | |
| NG_008402.2:g.3075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388835.4:c.884C>T MANE Select | ENSP00000373487.3:p.Thr295Met | |
| ENST00000388835.3:c.884C>T | ENSP00000373487.3:p.Thr295Met | |
| ENST00000388837.6:c.884C>T | ENSP00000373489.2:p.Thr295Met | |
| ENST00000546656.1:n.297C>T | ||
| ENST00000548496.1:n.51C>T | ||
| ENST00000549078.5:n.1270C>T | ||
| ENST00000550600.5:c.884C>T | ENSP00000447278.1:p.Thr295Met | |
| NM_000224.2:c.884C>T | NP_000215.1:p.Thr295Met | |
| NM_199187.1:c.884C>T | NP_954657.1:p.Thr295Met | |
| NM_000224.3:c.884C>T MANE Select | NP_000215.1:p.Thr295Met | |
| NM_199187.2:c.884C>T | NP_954657.1:p.Thr295Met |