Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837716C= , CM000685.2:g.154837716C= | GRCh38 |
| NC_000023.10:g.154065991C= , CM000685.1:g.154065991C= | GRCh37 |
| NC_000023.9:g.153719185C= | NCBI36 |
| NG_011403.1:g.190008G= | |
| NG_033065.1:g.1947G= | |
| NG_011403.2:g.190008G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6937G= MANE Select | NP_000123.1:p.Val2313= |
| ENST00000360256.9:c.6937G= MANE Select | ENSP00000353393.4:p.Val2313= |
| NM_000132.3:c.6937G= | NP_000123.1:p.Val2313= |
| NM_019863.2:c.532G= | NP_063916.1:p.Val178= |
| NM_019863.3:c.532G= | NP_063916.1:p.Val178= |
| ENST00000330287.10:c.532G= | ENSP00000327895.6:p.Val178= |
| ENST00000360256.8:c.6937G= | ENSP00000353393.4:p.Val2313= |
| ENST00000644698.1:c.670G= | ENSP00000495706.1:p.Val224= |
| XM_011531126.1:c.6832G= | XP_011529428.1:p.Val2278= |