Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658578C>T , CM000668.2:g.24658578C>T | GRCh38 |
| NC_000006.11:g.24658806C>T , CM000668.1:g.24658806C>T | GRCh37 |
| NC_000006.10:g.24766785C>T | NCBI36 |
| NG_052787.1:g.13310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.408G>A MANE Select | ENSP00000367440.4:p.Val136= | |
| ENST00000341060.3:c.234G>A | ENSP00000345345.3:p.Val78= | |
| ENST00000378198.8:c.408G>A | ENSP00000367440.4:p.Val136= | |
| ENST00000478285.1:n.595G>A | ||
| ENST00000478507.1:n.320-5425G>A | ||
| NM_016614.2:c.408G>A | NP_057698.2:p.Val136= | |
| XR_926244.1:n.535G>A | ||
| NM_016614.3:c.408G>A MANE Select | NP_057698.2:p.Val136= |