Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130874971G>C , CM000671.2:g.130874971G>C | GRCh38 |
| NC_000009.11:g.133750358G>C , CM000671.1:g.133750358G>C | GRCh37 |
| NC_000009.10:g.132740179G>C | NCBI36 |
| NG_012034.1:g.166091G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005157.6:c.1189G>C MANE Select | NP_005148.2:p.Ala397Pro |
| ENST00000318560.6:c.1189G>C MANE Select | ENSP00000323315.5:p.Ala397Pro |
| NM_005157.5:c.1189G>C | NP_005148.2:p.Ala397Pro |
| NM_007313.2:c.1246G>C | NP_009297.2:p.Ala416Pro |
| NM_007313.3:c.1246G>C | NP_009297.2:p.Ala416Pro |
| ENST00000318560.5:c.1189G>C | ENSP00000323315.5:p.Ala397Pro |
| ENST00000372348.6:c.1246G>C | ENSP00000361423.2:p.Ala416Pro |
| ENST00000372348.7:c.1246G>C | ENSP00000361423.2:p.Ala416Pro |
| ENST00000372348.9:c.1246G>C | ENSP00000361423.2:p.Ala416Pro |