Linked Data
ClinVar Variation Id:
360231
dbSNP Id:
rs146556791
ExAC:
7:42005522 G / A
gnomAD v2:
7-42005522-G-A
gnomAD v3:
7-41965924-G-A
gnomAD v4:
7-41965924-G-A
COSMIC:
COSM3414014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965924G>A , CM000669.2:g.41965924G>A | GRCh38 |
| NC_000007.13:g.42005522G>A , CM000669.1:g.42005522G>A | GRCh37 |
| NC_000007.12:g.41972047G>A | NCBI36 |
| NG_008434.1:g.276097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3149C>T MANE Select | ENSP00000379258.3:p.Thr1050Met | |
| ENST00000677288.1:c.2975C>T | ENSP00000503986.1:p.Thr992Met | |
| ENST00000677605.1:c.3149C>T | ENSP00000503743.1:p.Thr1050Met | |
| ENST00000678429.1:c.3149C>T | ENSP00000502957.1:p.Thr1050Met | |
| ENST00000395925.7:c.3149C>T | ENSP00000379258.3:p.Thr1050Met | |
| ENST00000479210.1:n.3126C>T | ||
| NM_000168.5:c.3149C>T | NP_000159.3:p.Thr1050Met | |
| XM_005249703.1:c.3149C>T | XP_005249760.1:p.Thr1050Met | |
| XM_005249704.2:c.3149C>T | XP_005249761.1:p.Thr1050Met | |
| XM_011515272.1:c.3149C>T | XP_011513574.1:p.Thr1050Met | |
| XM_011515273.1:c.3149C>T | XP_011513575.1:p.Thr1050Met | |
| XM_011515274.1:c.2972C>T | XP_011513576.1:p.Thr991Met | |
| XM_011515274.2:c.2972C>T | XP_011513576.1:p.Thr991Met | |
| XM_017011997.1:c.3146C>T | XP_016867486.1:p.Thr1049Met | |
| NM_000168.6:c.3149C>T MANE Select | NP_000159.3:p.Thr1050Met |