Linked Data
dbSNP Id:
rs754437379
gnomAD v2:
9-95481607-A-C
gnomAD v3:
9-92719325-A-C
gnomAD v4:
9-92719325-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719325A>C , CM000671.2:g.92719325A>C | GRCh38 |
| NC_000009.11:g.95481607A>C , CM000671.1:g.95481607A>C | GRCh37 |
| NC_000009.10:g.94521428A>C | NCBI36 |
| NG_033908.1:g.50477T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1320T>G MANE Select | ENSP00000349351.6:p.His440Gln | |
| ENST00000356884.10:c.1320T>G | ENSP00000349351.6:p.His440Gln | |
| ENST00000375512.3:c.1320T>G | ENSP00000364662.3:p.His440Gln | |
| NM_001003800.1:c.1320T>G | NP_001003800.1:p.His440Gln | |
| NM_015250.3:c.1320T>G | NP_056065.1:p.His440Gln | |
| XM_017014551.1:c.1401T>G | XP_016870040.1:p.His467Gln | |
| NM_001003800.2:c.1320T>G MANE Select | NP_001003800.1:p.His440Gln | |
| NM_015250.4:c.1320T>G | NP_056065.1:p.His440Gln |