Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83648513C>T , CM000669.2:g.83648513C>T | GRCh38 |
| NC_000007.13:g.83277829C>T , CM000669.1:g.83277829C>T | GRCh37 |
| NC_000007.12:g.83115765C>T | NCBI36 |
| NG_021242.1:g.5651G>A | |
| NG_021242.2:g.5651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453333.2:c.30G>A | ENSP00000415184.1:p.Leu10= | |
| ENST00000642232.1:c.30G>A | ENSP00000494064.1:p.Leu10= | |
| ENST00000643230.2:c.30G>A MANE Select | ENSP00000496491.1:p.Leu10= | |
| ENST00000307792.7:c.30G>A | ENSP00000303212.3:p.Leu10= | |
| ENST00000453333.1:c.30G>A | ENSP00000415184.1:p.Leu10= | |
| NM_012431.2:c.30G>A | NP_036563.1:p.Leu10= | |
| XM_011516715.1:c.30G>A | XP_011515017.1:p.Leu10= | |
| NM_012431.3:c.30G>A MANE Select | NP_036563.1:p.Leu10= |