Linked Data
dbSNP Id:
rs777055976
ExAC:
9:38396572 A / C
gnomAD v2:
9-38396572-A-C
gnomAD v4:
9-38396575-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396575A>C , CM000671.2:g.38396575A>C | GRCh38 |
| NC_000009.11:g.38396572A>C , CM000671.1:g.38396572A>C | GRCh37 |
| NC_000009.10:g.38386572A>C | NCBI36 |
| NG_012253.1:g.8871A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.827A>C MANE Select | ENSP00000366927.3:p.Asp276Ala | |
| ENST00000377698.3:c.827A>C | ENSP00000366927.3:p.Asp276Ala | |
| NM_000692.4:c.827A>C | NP_000683.3:p.Asp276Ala | |
| XM_011517802.1:c.827A>C | XP_011516104.1:p.Asp276Ala | |
| XM_011517802.2:c.827A>C | XP_011516104.1:p.Asp276Ala | |
| NM_000692.5:c.827A>C MANE Select | NP_000683.3:p.Asp276Ala |