Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031473C>A , CM000664.2:g.61031473C>A | GRCh38 |
| NC_000002.11:g.61258608C>A , CM000664.1:g.61258608C>A | GRCh37 |
| NC_000002.10:g.61112112C>A | NCBI36 |
| NG_008665.1:g.18797C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.147C>A MANE Select | NP_002609.1:p.Thr49= |
| ENST00000295030.6:c.147C>A MANE Select | ENSP00000295030.4:p.Thr49= |
| NM_002618.3:c.147C>A | NP_002609.1:p.Thr49= |
| ENST00000295030.5:c.147C>A | ENSP00000295030.4:p.Thr49= |
| ENST00000472678.1:n.210C>A | |
| XM_011532904.1:c.30C>A | XP_011531206.1:p.Thr10= |