Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860531T>C , CM000685.2:g.154860531T>C | GRCh38 |
| NC_000023.10:g.154088806T>C , CM000685.1:g.154088806T>C | GRCh37 |
| NC_000023.9:g.153742000T>C | NCBI36 |
| NG_011403.1:g.167193A>G | |
| NG_011403.2:g.167193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6801A>G MANE Select | ENSP00000353393.4:p.Val2267= | |
| ENST00000644698.1:c.534A>G | ENSP00000495706.1:p.Val178= | |
| ENST00000330287.10:c.396A>G | ENSP00000327895.6:p.Val132= | |
| ENST00000360256.8:c.6801A>G | ENSP00000353393.4:p.Val2267= | |
| NM_000132.3:c.6801A>G | NP_000123.1:p.Val2267= | |
| NM_019863.2:c.396A>G | NP_063916.1:p.Val132= | |
| XM_011531126.1:c.6696A>G | XP_011529428.1:p.Val2232= | |
| NM_000132.4:c.6801A>G MANE Select | NP_000123.1:p.Val2267= | |
| NM_019863.3:c.396A>G | NP_063916.1:p.Val132= |