Linked Data
dbSNP Id:
rs754357059
ExAC:
7:143047666 T / C
gnomAD v2:
7-143047666-T-C
gnomAD v4:
7-143350573-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350573T>C , CM000669.2:g.143350573T>C | GRCh38 |
| NC_000007.13:g.143047666T>C , CM000669.1:g.143047666T>C | GRCh37 |
| NC_000007.12:g.142757788T>C | NCBI36 |
| NG_009815.1:g.39448T>C | |
| NG_009815.2:g.39448T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.2514T>C | ENSP00000498052.2:p.His838= | |
| ENST00000343257.7:c.2514T>C MANE Select | ENSP00000339867.2:p.His838= | |
| ENST00000432192.6:c.2338T>C | ||
| ENST00000343257.6:c.2514T>C | ENSP00000339867.2:p.His838= | |
| NM_000083.2:c.2514T>C | NP_000074.2:p.His838= | |
| NR_046453.1:n.2454T>C | ||
| XM_011515781.1:c.2538T>C | XP_011514083.1:p.His846= | |
| XM_011515782.1:c.1260T>C | XP_011514084.1:p.His420= | |
| XM_011515782.2:c.1260T>C | XP_011514084.1:p.His420= | |
| XM_017011739.1:c.2088T>C | XP_016867228.1:p.His696= | |
| XM_017011740.1:c.2064T>C | XP_016867229.1:p.His688= | |
| NM_000083.3:c.2514T>C MANE Select | NP_000074.3:p.His838= | |
| NR_046453.2:n.2469T>C |