Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6151907C= , CM000668.2:g.6151907C= | GRCh38 |
| NC_000006.11:g.6152140C= , CM000668.1:g.6152140C= | GRCh37 |
| NC_000006.10:g.6097139C= | NCBI36 |
| NG_008107.1:g.173785G= , LRG_549:g.173785G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.1951G= MANE Select | NP_000120.2:p.Val651= |
| ENST00000264870.8:c.1951G= MANE Select | ENSP00000264870.3:p.Val651= |
| NM_000129.3:c.1951G= , LRG_549t1:c.1951G= | NP_000120.2:p.Val651= |
| ENST00000264870.7:c.1951G= | ENSP00000264870.3:p.Val651= |
| XM_006715010.2:c.1951G= | XP_006715073.1:p.Val651= |
| XM_011514342.1:c.2113G= | XP_011512644.1:p.Val705= |