Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129206526G>C , CM000669.2:g.129206526G>C | GRCh38 |
| NC_000007.13:g.128846367G>C , CM000669.1:g.128846367G>C | GRCh37 |
| NC_000007.12:g.128633603G>C | NCBI36 |
| NG_023340.1:g.22655G>C | |
| NG_023340.2:g.22655G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005631.5:c.1203G>C MANE Select | NP_005622.1:p.Ala401= |
| ENST00000249373.8:c.1203G>C MANE Select | ENSP00000249373.3:p.Ala401= |
| NM_005631.4:c.1203G>C | NP_005622.1:p.Ala401= |
| ENST00000249373.7:c.1203G>C | ENSP00000249373.3:p.Ala401= |
| ENST00000462420.2:c.283G>C | |
| ENST00000495998.1:n.148G>C | |
| ENST00000655644.1:c.*1067G>C | ENSP00000499377.1:n.*1067G>C |
| XM_011516522.1:c.813G>C | XP_011514824.1:p.Ala271= |
| XM_024446891.1:c.813G>C | XP_024302659.1:p.Ala271= |