Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205211483G>A , CM000663.2:g.205211483G>A | GRCh38 |
| NC_000001.10:g.205180611G>A , CM000663.1:g.205180611G>A | GRCh37 |
| NC_000001.9:g.203447234G>A | NCBI36 |
| NG_033904.1:g.5117C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015375.3:c.53C>T MANE Select | NP_056190.1:p.Pro18Leu |
| ENST00000367162.8:c.53C>T MANE Select | ENSP00000356130.3:p.Pro18Leu |
| NM_015375.2:c.53C>T | NP_056190.1:p.Pro18Leu |
| NM_199462.2:c.53C>T | NP_955749.1:p.Pro18Leu |
| NM_199462.3:c.53C>T | NP_955749.1:p.Pro18Leu |
| ENST00000367161.7:c.53C>T | ENSP00000356129.3:p.Pro18Leu |
| ENST00000367162.7:c.53C>T | ENSP00000356130.3:p.Pro18Leu |
| XM_011509392.1:c.53C>T | XP_011507694.1:p.Pro18Leu |
| XM_011509392.2:c.53C>T | XP_011507694.1:p.Pro18Leu |