Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872878C>T , CM000671.2:g.130872878C>T | GRCh38 |
| NC_000009.11:g.133748265C>T , CM000671.1:g.133748265C>T | GRCh37 |
| NC_000009.10:g.132738086C>T | NCBI36 |
| NG_012034.1:g.163998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.983C>T | ENSP00000361423.2:p.Pro328Leu | |
| ENST00000318560.6:c.926C>T MANE Select | ENSP00000323315.5:p.Pro309Leu | |
| ENST00000372348.7:c.983C>T | ENSP00000361423.2:p.Pro328Leu | |
| ENST00000318560.5:c.926C>T | ENSP00000323315.5:p.Pro309Leu | |
| ENST00000372348.6:c.983C>T | ENSP00000361423.2:p.Pro328Leu | |
| NM_005157.5:c.926C>T | NP_005148.2:p.Pro309Leu | |
| NM_007313.2:c.983C>T | NP_009297.2:p.Pro328Leu | |
| NM_005157.6:c.926C>T MANE Select | NP_005148.2:p.Pro309Leu | |
| NM_007313.3:c.983C>T | NP_009297.2:p.Pro328Leu |