Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169544198C>A , CM000663.2:g.169544198C>A | GRCh38 |
| NC_000001.10:g.169513436C>A , CM000663.1:g.169513436C>A | GRCh37 |
| NC_000001.9:g.167780060C>A | NCBI36 |
| NG_011806.1:g.47334G>T , LRG_553:g.47334G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.1975+98G>T MANE Select | NP_000121.2:n.1975+98G>T |
| ENST00000367797.9:c.1975+98G>T MANE Select | ENSP00000356771.3:n.1975+98G>T |
| NM_000130.4:c.1975+98G>T , LRG_553t1:c.1975+98G>T | NP_000121.2:n.1975+98G>T |
| ENST00000367796.3:c.1990+98G>T | ENSP00000356770.3:n.1990+98G>T |
| ENST00000367797.7:c.1975+98G>T | ENSP00000356771.3:n.1975+98G>T |
| XM_017000660.2:c.1564+98G>T | XP_016856149.1:n.1564+98G>T |