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