Linked Data
dbSNP Id:
rs756828542
ExAC:
8:55538503 T / C
gnomAD v2:
8-55538503-T-C
gnomAD v4:
8-54625943-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625943T>C , CM000670.2:g.54625943T>C | GRCh38 |
| NC_000008.10:g.55538503T>C , CM000670.1:g.55538503T>C | GRCh37 |
| NC_000008.9:g.55701056T>C | NCBI36 |
| NG_009840.1:g.14877T>C | |
| NG_009840.2:g.14877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.2061T>C MANE Select | ENSP00000220676.1:p.Asp687= | |
| ENST00000636932.1:c.787+3655T>C | ENSP00000489857.1:n.787+3655T>C | |
| ENST00000637698.1:c.787+3655T>C | ENSP00000490104.1:n.787+3655T>C | |
| ENST00000220676.1:c.2061T>C | ENSP00000220676.1:p.Asp687= | |
| NM_006269.1:c.2061T>C | NP_006260.1:p.Asp687= | |
| XM_017013721.1:c.2082T>C | XP_016869210.1:p.Asp694= | |
| XM_017013722.1:c.2061T>C | XP_016869211.1:p.Asp687= | |
| NM_001375654.1:c.787+3655T>C | NP_001362583.1:n.787+3655T>C | |
| NM_006269.2:c.2061T>C MANE Select | NP_006260.1:p.Asp687= |