Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93101996C>T , CM000669.2:g.93101996C>T | GRCh38 |
| NC_000007.13:g.92731309C>T , CM000669.1:g.92731309C>T | GRCh37 |
| NC_000007.12:g.92569245C>T | NCBI36 |
| NG_023419.1:g.21028G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.4102G>A MANE Select | ENSP00000369292.2:p.Glu1368Lys | |
| ENST00000379958.2:c.4102G>A | ENSP00000369292.2:p.Glu1368Lys | |
| ENST00000620985.4:c.4102G>A | ENSP00000484636.1:p.Glu1368Lys | |
| NM_001193307.1:c.4102G>A | NP_001180236.1:p.Glu1368Lys | |
| NM_017654.3:c.4102G>A | NP_060124.2:p.Glu1368Lys | |
| NM_017654.4:c.4102G>A MANE Select | NP_060124.2:p.Glu1368Lys | |
| NM_001193307.2:c.4102G>A | NP_001180236.1:p.Glu1368Lys |