Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63569592G>T , CM000682.2:g.63569592G>T | GRCh38 |
| NC_000020.10:g.62200945G>T , CM000682.1:g.62200945G>T | GRCh37 |
| NC_000020.9:g.61671389G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001037335.2:c.644C>A MANE Select | NP_001032412.2:p.Pro215Gln |
| ENST00000467148.2:c.644C>A MANE Select | ENSP00000417401.1:p.Pro215Gln |
| ENST00000467148.1:c.644C>A | ENSP00000417401.1:p.Pro215Gln |
| XM_011529092.1:c.644C>A | XP_011527394.1:p.Pro215Gln |
| XM_024452006.1:c.644C>A | XP_024307774.1:p.Pro215Gln |
| XM_024452007.1:c.644C>A | XP_024307775.1:p.Pro215Gln |