Linked Data
dbSNP Id:
rs777767461
ExAC:
6:121768298 A / T
gnomAD v2:
6-121768298-A-T
gnomAD v4:
6-121447152-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447152A>T , CM000668.2:g.121447152A>T | GRCh38 |
| NC_000006.11:g.121768298A>T , CM000668.1:g.121768298A>T | GRCh37 |
| NC_000006.10:g.121809997A>T | NCBI36 |
| NG_008308.1:g.16554A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.305A>T MANE Select | ENSP00000282561.3:p.Lys102Met | |
| ENST00000647564.1:c.305A>T | ENSP00000497565.1:p.Lys102Met | |
| ENST00000649003.1:c.305A>T | ENSP00000497283.1:p.Lys102Met | |
| ENST00000650427.1:c.305A>T | ENSP00000497367.1:p.Lys102Met | |
| ENST00000282561.3:c.305A>T | ENSP00000282561.3:p.Lys102Met | |
| NM_000165.4:c.305A>T | NP_000156.1:p.Lys102Met | |
| NM_000165.5:c.305A>T MANE Select | NP_000156.1:p.Lys102Met |