Linked Data
dbSNP Id:
rs1210107414
gnomAD v2:
7-143048728-G-C
gnomAD v3:
7-143351635-G-C
gnomAD v4:
7-143351635-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351635G>C , CM000669.2:g.143351635G>C | GRCh38 |
| NC_000007.13:g.143048728G>C , CM000669.1:g.143048728G>C | GRCh37 |
| NC_000007.12:g.142758850G>C | NCBI36 |
| NG_009815.1:g.40510G>C | |
| NG_009815.2:g.40510G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2637G>C | ENSP00000498052.2:p.Gln879His | |
| ENST00000343257.7:c.2637G>C MANE Select | ENSP00000339867.2:p.Gln879His | |
| ENST00000432192.6:c.2461G>C | ||
| ENST00000343257.6:c.2637G>C | ENSP00000339867.2:p.Gln879His | |
| NM_000083.2:c.2637G>C | NP_000074.2:p.Gln879His | |
| NR_046453.1:n.2577G>C | ||
| XM_011515781.1:c.2661G>C | XP_011514083.1:p.Gln887His | |
| XM_011515782.1:c.1383G>C | XP_011514084.1:p.Gln461His | |
| XM_011515782.2:c.1383G>C | XP_011514084.1:p.Gln461His | |
| XM_017011739.1:c.2211G>C | XP_016867228.1:p.Gln737His | |
| XM_017011740.1:c.2187G>C | XP_016867229.1:p.Gln729His | |
| NM_000083.3:c.2637G>C MANE Select | NP_000074.3:p.Gln879His | |
| NR_046453.2:n.2592G>C |