Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138917310G>A , CM000669.2:g.138917310G>A | GRCh38 |
| NC_000007.13:g.138602056G>A , CM000669.1:g.138602056G>A | GRCh37 |
| NC_000007.12:g.138252596G>A | NCBI36 |
| NG_032965.1:g.69009C>T | |
| NG_032965.2:g.69009C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001164665.2:c.2316C>T MANE Select | NP_001158137.1:p.Pro772= |
| ENST00000422774.2:c.2316C>T MANE Select | ENSP00000416040.2:p.Pro772= |
| NM_001164665.1:c.2316C>T | NP_001158137.1:p.Pro772= |
| NM_020910.2:c.2316C>T | NP_065961.2:p.Pro772= |
| NM_020910.3:c.2316C>T | NP_065961.2:p.Pro772= |
| ENST00000422774.1:c.2316C>T | ENSP00000416040.1:p.Pro772= |
| ENST00000440172.5:c.2316C>T | ENSP00000406661.1:p.Pro772= |
| XM_011516442.1:c.2316C>T | XP_011514744.1:p.Pro772= |
| XM_011516442.2:c.2316C>T | XP_011514744.1:p.Pro772= |