Linked Data
dbSNP Id:
rs769211997
ExAC:
9:126139261 C / G
gnomAD v2:
9-126139261-C-G
gnomAD v4:
9-123376982-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123376982C>G , CM000671.2:g.123376982C>G | GRCh38 |
| NC_000009.11:g.126139261C>G , CM000671.1:g.126139261C>G | GRCh37 |
| NC_000009.10:g.125179082C>G | NCBI36 |
| NG_051311.1:g.27918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3778C>G MANE Select | ENSP00000362734.3:p.Pro1260Ala | |
| ENST00000373631.7:c.3778C>G | ENSP00000362734.3:p.Pro1260Ala | |
| ENST00000460253.1:c.2782C>G | ENSP00000435279.1:p.Pro928Ala | |
| NM_173689.6:c.3778C>G | NP_775960.4:p.Pro1260Ala | |
| NR_104603.1:n.2892C>G | ||
| XM_005251934.1:c.2782C>G | XP_005251991.1:p.Pro928Ala | |
| XM_011518556.1:c.3751C>G | XP_011516858.1:p.Pro1251Ala | |
| XM_011518557.1:c.3583C>G | XP_011516859.1:p.Pro1195Ala | |
| XM_011518558.1:c.3583C>G | XP_011516860.1:p.Pro1195Ala | |
| XM_005251934.3:c.2782C>G | XP_005251991.1:p.Pro928Ala | |
| XM_011518556.3:c.3751C>G | XP_011516858.1:p.Pro1251Ala | |
| XM_011518557.3:c.3583C>G | XP_011516859.1:p.Pro1195Ala | |
| XM_011518558.3:c.3583C>G | XP_011516860.1:p.Pro1195Ala | |
| NM_173689.7:c.3778C>G MANE Select | NP_775960.4:p.Pro1260Ala | |
| NR_104603.2:n.2892C>G |