Linked Data
dbSNP Id:
rs2075800
ExAC:
6:31777946 C / T
gnomAD v2:
6-31777946-C-T
gnomAD v3:
6-31810169-C-T
gnomAD v4:
6-31810169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31810169C>T , CM000668.2:g.31810169C>T | GRCh38 |
| NC_000006.11:g.31777946C>T , CM000668.1:g.31777946C>T | GRCh37 |
| NC_000006.10:g.31885925C>T | NCBI36 |
| NG_011855.1:g.9890G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375654.5:c.1804G>A MANE Select | ENSP00000364805.4:p.Glu602Lys | |
| ENST00000375654.4:c.1804G>A | ENSP00000364805.4:p.Glu602Lys | |
| NM_005527.3:c.1804G>A | NP_005518.3:p.Glu602Lys | |
| XM_005249070.3:c.1996G>A | XP_005249127.1:p.Glu666Lys | |
| XM_005249071.1:c.1804G>A | XP_005249128.1:p.Glu602Lys | |
| XM_005249073.2:c.1804G>A | XP_005249130.1:p.Glu602Lys | |
| XM_011514566.1:c.1804G>A | XP_011512868.1:p.Glu602Lys | |
| NM_005527.4:c.1804G>A MANE Select | NP_005518.3:p.Glu602Lys |