Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15174248A>G , CM000681.2:g.15174248A>G | GRCh38 |
| NC_000019.9:g.15285059A>G , CM000681.1:g.15285059A>G | GRCh37 |
| NC_000019.8:g.15146059A>G | NCBI36 |
| NG_009819.1:g.31734T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.4556T>C MANE Select | NP_000426.2:p.Leu1519Pro |
| ENST00000263388.7:c.4556T>C MANE Select | ENSP00000263388.1:p.Leu1519Pro |
| NM_000435.2:c.4556T>C | NP_000426.2:p.Leu1519Pro |
| ENST00000263388.6:c.4556T>C | ENSP00000263388.1:p.Leu1519Pro |
| XM_005259924.3:c.4400T>C | XP_005259981.1:p.Leu1467Pro |
| XM_005259924.4:c.4400T>C | XP_005259981.1:p.Leu1467Pro |