Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417095C= , CM000678.2:g.23417095C= | GRCh38 |
| NC_000016.9:g.23428416C= , CM000678.1:g.23428416C= | GRCh37 |
| NC_000016.8:g.23335917C= | NCBI36 |
| NG_021287.1:g.41097G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1164G= MANE Select | ENSP00000305442.5:p.Val388= | |
| ENST00000307149.9:c.1164G= | ENSP00000305442.5:p.Val388= | |
| ENST00000567821.1:n.199G= | ||
| NM_153603.3:c.1164G= | NP_705831.1:p.Val388= | |
| XR_429680.1:n.1380G= | ||
| XM_017023870.1:c.969G= | XP_016879359.1:p.Val323= | |
| XR_002957852.1:n.1385G= | ||
| XR_429680.2:n.1385G= | ||
| NM_153603.4:c.1164G= MANE Select | NP_705831.1:p.Val388= |