Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154861810C= , CM000685.2:g.154861810C= | GRCh38 |
| NC_000023.10:g.154090085C= , CM000685.1:g.154090085C= | GRCh37 |
| NC_000023.9:g.153743279C= | NCBI36 |
| NG_011403.1:g.165914G= | |
| NG_011403.2:g.165914G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6631G= MANE Select | NP_000123.1:p.Ala2211= |
| ENST00000360256.9:c.6631G= MANE Select | ENSP00000353393.4:p.Ala2211= |
| NM_000132.3:c.6631G= | NP_000123.1:p.Ala2211= |
| NM_019863.2:c.226G= | NP_063916.1:p.Ala76= |
| NM_019863.3:c.226G= | NP_063916.1:p.Ala76= |
| ENST00000330287.10:c.226G= | ENSP00000327895.6:p.Ala76= |
| ENST00000360256.8:c.6631G= | ENSP00000353393.4:p.Ala2211= |
| ENST00000644698.1:c.364G= | ENSP00000495706.1:p.Ala122= |
| XM_011531126.1:c.6526G= | XP_011529428.1:p.Ala2176= |