Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860538T= , CM000685.2:g.154860538T= | GRCh38 |
| NC_000023.10:g.154088813T= , CM000685.1:g.154088813T= | GRCh37 |
| NC_000023.9:g.153742007T= | NCBI36 |
| NG_011403.1:g.167186A= | |
| NG_011403.2:g.167186A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6794A= MANE Select | NP_000123.1:p.Gln2265= |
| ENST00000360256.9:c.6794A= MANE Select | ENSP00000353393.4:p.Gln2265= |
| NM_000132.3:c.6794A= | NP_000123.1:p.Gln2265= |
| NM_019863.2:c.389A= | NP_063916.1:p.Gln130= |
| NM_019863.3:c.389A= | NP_063916.1:p.Gln130= |
| ENST00000330287.10:c.389A= | ENSP00000327895.6:p.Gln130= |
| ENST00000360256.8:c.6794A= | ENSP00000353393.4:p.Gln2265= |
| ENST00000644698.1:c.527A= | ENSP00000495706.1:p.Gln176= |
| XM_011531126.1:c.6689A= | XP_011529428.1:p.Gln2230= |