Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48756272A>C , CM000681.2:g.48756272A>C | GRCh38 |
| NC_000019.9:g.49259529A>C , CM000681.1:g.49259529A>C | GRCh37 |
| NC_000019.8:g.53951341A>C | NCBI36 |
| NG_007510.1:g.4119T>G | |
| NG_033945.1:g.5186A>C | |
| NG_007510.2:g.4119T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019113.4:c.36A>C MANE Select | NP_061986.1:p.Gly12= |
| ENST00000593756.6:c.36A>C MANE Select | ENSP00000471477.1:p.Gly12= |
| NM_019113.2:c.36A>C | NP_061986.1:p.Gly12= |
| NM_019113.3:c.36A>C | NP_061986.1:p.Gly12= |
| ENST00000222157.4:c.36A>C | ENSP00000222157.3:p.Gly12= |
| ENST00000222157.5:c.36A>C | ENSP00000222157.3:p.Gly12= |
| ENST00000593756.5:c.36A>C | ENSP00000471477.1:p.Gly12= |
| XM_005258731.1:c.36A>C | XP_005258788.1:p.Gly12= |