Linked Data
dbSNP Id:
rs1557276118
gnomAD v2:
X-154132222-T-C
gnomAD v3:
X-154903947-T-C
gnomAD v4:
X-154903947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903947T>C , CM000685.2:g.154903947T>C | GRCh38 |
| NC_000023.10:g.154132222T>C , CM000685.1:g.154132222T>C | GRCh37 |
| NC_000023.9:g.153785416T>C | NCBI36 |
| NG_011403.1:g.123777A>G | |
| NG_011403.2:g.123777A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5957A>G MANE Select | ENSP00000353393.4:p.Lys1986Arg | |
| ENST00000360256.8:c.5957A>G | ENSP00000353393.4:p.Lys1986Arg | |
| NM_000132.3:c.5957A>G | NP_000123.1:p.Lys1986Arg | |
| XM_011531126.1:c.5852A>G | XP_011529428.1:p.Lys1951Arg | |
| NM_000132.4:c.5957A>G MANE Select | NP_000123.1:p.Lys1986Arg |