Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2304366G>A , CM000663.2:g.2304366G>A | GRCh38 |
| NC_000001.10:g.2235805G>A , CM000663.1:g.2235805G>A | GRCh37 |
| NC_000001.9:g.2225665G>A | NCBI36 |
| NG_013084.1:g.80672G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.1548G>A MANE Select | NP_003027.1:p.Pro516= |
| ENST00000378536.5:c.1548G>A MANE Select | ENSP00000367797.4:p.Pro516= |
| NM_003036.3:c.1548G>A | NP_003027.1:p.Pro516= |
| ENST00000378536.4:c.1548G>A | ENSP00000367797.4:p.Pro516= |
| ENST00000507179.1:n.537G>A | |
| XM_005244775.2:c.1554G>A | XP_005244832.1:p.Pro518= |
| XM_005244775.3:c.1554G>A | XP_005244832.1:p.Pro518= |
| XM_005244776.3:c.684G>A | XP_005244833.1:p.Pro228= |
| XM_005244776.4:c.684G>A | XP_005244833.1:p.Pro228= |
| XM_017002128.1:c.1062G>A | XP_016857617.1:p.Pro354= |