Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41177194T>C , CM000684.2:g.41177194T>C | GRCh38 |
| NC_000022.10:g.41573198T>C , CM000684.1:g.41573198T>C | GRCh37 |
| NC_000022.9:g.39903144T>C | NCBI36 |
| NG_009817.1:g.89585T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001429.4:c.5483T>C MANE Select | NP_001420.2:p.Leu1828Pro |
| ENST00000263253.9:c.5483T>C MANE Select | ENSP00000263253.7:p.Leu1828Pro |
| NM_001362843.1:c.5405T>C | NP_001349772.1:p.Leu1802Pro |
| NM_001362843.2:c.5405T>C | NP_001349772.1:p.Leu1802Pro |
| NM_001429.3:c.5483T>C | NP_001420.2:p.Leu1828Pro |
| ENST00000263253.8:c.5483T>C | ENSP00000263253.7:p.Leu1828Pro |
| ENST00000674155.1:c.5405T>C | ENSP00000501078.1:p.Leu1802Pro |
| XM_006724165.2:c.5405T>C | XP_006724228.1:p.Leu1802Pro |