Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48040709T>C , CM000681.2:g.48040709T>C | GRCh38 |
| NC_000019.9:g.48543966T>C , CM000681.1:g.48543966T>C | GRCh37 |
| NC_000019.8:g.53235778T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019855.5:c.134A>G MANE Select | NP_062829.1:p.Asp45Gly |
| ENST00000293255.3:c.134A>G MANE Select | ENSP00000293255.1:p.Asp45Gly |
| NM_019855.4:c.134A>G | NP_062829.1:p.Asp45Gly |
| ENST00000293255.2:c.134A>G | ENSP00000293255.1:p.Asp45Gly |
| XM_011527121.1:c.-35A>G | XP_011525423.1:n.-35A>G |
| XM_011527122.1:c.-35A>G | XP_011525424.1:n.-35A>G |
| XM_017026992.1:c.467A>G | XP_016882481.1:p.Asp156Gly |