Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29510932G>C , CM000679.2:g.29510932G>C | GRCh38 |
| NC_000017.10:g.27837950G>C , CM000679.1:g.27837950G>C | GRCh37 |
| NC_000017.9:g.24862076G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020791.4:c.1644G>C MANE Select | NP_065842.1:p.Leu548= |
| ENST00000261716.8:c.1644G>C MANE Select | ENSP00000261716.3:p.Leu548= |
| NM_020791.2:c.1644G>C | NP_065842.1:p.Leu548= |
| NM_025142.1:c.1644G>C | NP_079418.1:p.Leu548= |
| ENST00000261716.7:c.1644G>C | ENSP00000261716.3:p.Leu548= |
| ENST00000536202.1:c.1644G>C | ENSP00000438819.1:p.Leu548= |
| ENST00000577583.1:n.1492G>C | |
| XM_011525060.1:c.1644G>C | XP_011523362.1:p.Leu548= |
| XM_011525060.2:c.1644G>C | XP_011523362.1:p.Leu548= |