Linked Data
dbSNP Id:
rs144219651
ExAC:
1:204131145 A / T
gnomAD v2:
1-204131145-A-T
gnomAD v3:
1-204162017-A-T
gnomAD v4:
1-204162017-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162017A>T , CM000663.2:g.204162017A>T | GRCh38 |
| NC_000001.10:g.204131145A>T , CM000663.1:g.204131145A>T | GRCh37 |
| NC_000001.9:g.202397768A>T | NCBI36 |
| NG_012122.1:g.9321T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.245T>A MANE Select | ENSP00000272190.8:p.Met82Lys | |
| ENST00000638118.1:c.131T>A | ENSP00000490307.1:p.Met44Lys | |
| ENST00000272190.8:c.245T>A | ENSP00000272190.8:p.Met82Lys | |
| NM_000537.3:c.245T>A | NP_000528.1:p.Met82Lys | |
| NM_000537.4:c.245T>A MANE Select | NP_000528.1:p.Met82Lys |