Linked Data
dbSNP Id:
rs1005226688
gnomAD v2:
5-132227870-A-C
gnomAD v3:
5-132892178-A-C
gnomAD v4:
5-132892178-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132892178A>C , CM000667.2:g.132892178A>C | GRCh38 |
| NC_000005.9:g.132227870A>C , CM000667.1:g.132227870A>C | GRCh37 |
| NC_000005.8:g.132255769A>C | NCBI36 |
| NG_030340.1:g.76485T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265343.10:c.2623T>G MANE Select | ENSP00000265343.5:p.Ser875Ala | |
| ENST00000265343.9:c.2623T>G | ENSP00000265343.5:p.Ser875Ala | |
| ENST00000378595.7:c.2623T>G | ENSP00000367858.3:p.Ser875Ala | |
| NM_014423.3:c.2623T>G | NP_055238.1:p.Ser875Ala | |
| XM_005271963.3:c.2623T>G | XP_005272020.1:p.Ser875Ala | |
| XM_005271964.3:c.1489T>G | XP_005272021.1:p.Ser497Ala | |
| XM_006714587.2:c.2536T>G | XP_006714650.1:p.Ser846Ala | |
| XM_005271963.5:c.2623T>G | XP_005272020.1:p.Ser875Ala | |
| XM_005271964.4:c.1489T>G | XP_005272021.1:p.Ser497Ala | |
| XM_006714587.4:c.2536T>G | XP_006714650.1:p.Ser846Ala | |
| NM_014423.4:c.2623T>G MANE Select | NP_055238.1:p.Ser875Ala |