Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119925631A>T , CM000663.2:g.119925631A>T | GRCh38 |
| NC_000001.10:g.120468254A>T , CM000663.1:g.120468254A>T | GRCh37 |
| NC_000001.9:g.120269777A>T | NCBI36 |
| NG_008163.1:g.149023T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.4185T>A MANE Select | ENSP00000256646.2:p.Pro1395= | |
| ENST00000256646.6:c.4185T>A | ENSP00000256646.2:p.Pro1395= | |
| NM_024408.3:c.4185T>A | NP_077719.2:p.Pro1395= | |
| XM_005270901.2:c.4068T>A | XP_005270958.1:p.Pro1356= | |
| XM_011541519.1:c.4173T>A | XP_011539821.1:p.Pro1391= | |
| XM_011541520.1:c.4068T>A | XP_011539822.1:p.Pro1356= | |
| NM_024408.4:c.4185T>A MANE Select | NP_077719.2:p.Pro1395= |