Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169549866C>A , CM000663.2:g.169549866C>A | GRCh38 |
| NC_000001.10:g.169519104C>A , CM000663.1:g.169519104C>A | GRCh37 |
| NC_000001.9:g.167785728C>A | NCBI36 |
| NG_011806.1:g.41666G>T , LRG_553:g.41666G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.1546G>T MANE Select | NP_000121.2:p.Ala516Ser |
| ENST00000367797.9:c.1546G>T MANE Select | ENSP00000356771.3:p.Ala516Ser |
| NM_000130.4:c.1546G>T , LRG_553t1:c.1546G>T | NP_000121.2:p.Ala516Ser |
| ENST00000367796.3:c.1546G>T | ENSP00000356770.3:p.Ala516Ser |
| ENST00000367797.7:c.1546G>T | ENSP00000356771.3:p.Ala516Ser |
| XM_017000660.2:c.1135G>T | XP_016856149.1:p.Ala379Ser |