Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633112C>T , CM000669.2:g.100633112C>T | GRCh38 |
| NC_000007.13:g.100230735C>T , CM000669.1:g.100230735C>T | GRCh37 |
| NC_000007.12:g.100068671C>T | NCBI36 |
| NG_007989.1:g.13439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.738G>A MANE Select | ENSP00000223051.3:p.Val246= | |
| ENST00000223051.7:c.738G>A | ENSP00000223051.3:p.Val246= | |
| ENST00000431692.5:c.738G>A | ENSP00000413905.1:p.Val246= | |
| ENST00000462107.1:c.738G>A | ENSP00000420525.1:p.Val246= | |
| ENST00000465294.5:n.743G>A | ||
| ENST00000473374.5:n.188G>A | ||
| ENST00000473571.1:n.192G>A | ||
| ENST00000475011.1:n.267G>A | ||
| ENST00000476304.5:n.359G>A | ||
| NM_001206855.1:c.225G>A | NP_001193784.1:p.Val75= | |
| NM_003227.3:c.738G>A | NP_003218.2:p.Val246= | |
| XM_005250553.3:c.738G>A | XP_005250610.1:p.Val246= | |
| XM_005250554.3:c.738G>A | XP_005250611.1:p.Val246= | |
| NM_001206855.2:c.225G>A | NP_001193784.1:p.Val75= | |
| XM_005250553.4:c.738G>A | XP_005250610.1:p.Val246= | |
| XM_017012573.1:c.738G>A | XP_016868062.1:p.Val246= | |
| NM_003227.4:c.738G>A MANE Select | NP_003218.2:p.Val246= | |
| NM_001206855.3:c.225G>A | NP_001193784.1:p.Val75= |