Linked Data
dbSNP Id:
rs752636369
ExAC:
1:169521893 C / T
gnomAD v2:
1-169521893-C-T
gnomAD v4:
1-169552655-C-T
COSMIC:
COSM4854396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552655C>T , CM000663.2:g.169552655C>T | GRCh38 |
| NC_000001.10:g.169521893C>T , CM000663.1:g.169521893C>T | GRCh37 |
| NC_000001.9:g.167788517C>T | NCBI36 |
| NG_011806.1:g.38877G>A , LRG_553:g.38877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1198G>A MANE Select | ENSP00000356771.3:p.Glu400Lys | |
| ENST00000367796.3:c.1198G>A | ENSP00000356770.3:p.Glu400Lys | |
| ENST00000367797.7:c.1198G>A | ENSP00000356771.3:p.Glu400Lys | |
| NM_000130.4:c.1198G>A , LRG_553t1:c.1198G>A | NP_000121.2:p.Glu400Lys | |
| XM_017000660.2:c.787G>A | XP_016856149.1:p.Glu263Lys | |
| NM_000130.5:c.1198G>A MANE Select | NP_000121.2:p.Glu400Lys |