Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118530C>T , CM000676.2:g.50118530C>T | GRCh38 |
| NC_000014.8:g.50585248C>T , CM000676.1:g.50585248C>T | GRCh37 |
| NC_000014.7:g.49654998C>T | NCBI36 |
| NG_051073.1:g.118164G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3813G>A MANE Select | ENSP00000216373.5:p.Pro1271= | |
| ENST00000216373.9:c.3813G>A | ENSP00000216373.5:p.Pro1271= | |
| ENST00000543680.5:c.3714G>A | ENSP00000445328.1:p.Pro1238= | |
| NM_006939.2:c.3813G>A | NP_008870.2:p.Pro1271= | |
| XM_005268021.1:c.3633G>A | XP_005268078.1:p.Pro1211= | |
| XM_011537103.1:c.3774G>A | XP_011535405.1:p.Pro1258= | |
| NM_006939.3:c.3813G>A | NP_008870.2:p.Pro1271= | |
| NM_006939.4:c.3813G>A MANE Select | NP_008870.2:p.Pro1271= |