Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128849462G= , CM000669.2:g.128849462G= | GRCh38 |
| NC_000007.13:g.128489516G= , CM000669.1:g.128489516G= | GRCh37 |
| NC_000007.12:g.128276752G= | NCBI36 |
| NG_011807.1:g.24034G= , LRG_870:g.24034G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.5083G= MANE Select | ENSP00000327145.8:p.Val1695= | |
| ENST00000325888.12:c.5083G= | ENSP00000327145.8:p.Val1695= | |
| ENST00000346177.6:c.5083G= | ENSP00000344002.6:p.Val1695= | |
| NM_001127487.1:c.5083G= | NP_001120959.1:p.Val1695= | |
| NM_001458.4:c.5083G= , LRG_870t1:c.5083G= | NP_001449.3:p.Val1695= | |
| NM_001127487.2:c.5083G= | NP_001120959.1:p.Val1695= | |
| NM_001458.5:c.5083G= MANE Select | NP_001449.3:p.Val1695= |