Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15170687T>G , CM000681.2:g.15170687T>G | GRCh38 |
| NC_000019.9:g.15281498T>G , CM000681.1:g.15281498T>G | GRCh37 |
| NC_000019.8:g.15142498T>G | NCBI36 |
| NG_009819.1:g.35295A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.4875A>C MANE Select | NP_000426.2:p.Pro1625= |
| ENST00000263388.7:c.4875A>C MANE Select | ENSP00000263388.1:p.Pro1625= |
| NM_000435.2:c.4875A>C | NP_000426.2:p.Pro1625= |
| ENST00000263388.6:c.4875A>C | ENSP00000263388.1:p.Pro1625= |
| XM_005259924.3:c.4719A>C | XP_005259981.1:p.Pro1573= |
| XM_005259924.4:c.4719A>C | XP_005259981.1:p.Pro1573= |