Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23413552A>G , CM000678.2:g.23413552A>G | GRCh38 |
| NC_000016.9:g.23424873A>G , CM000678.1:g.23424873A>G | GRCh37 |
| NC_000016.8:g.23332374A>G | NCBI36 |
| NG_021287.1:g.44640T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.1305T>C MANE Select | NP_705831.1:p.Asp435= |
| ENST00000307149.10:c.1305T>C MANE Select | ENSP00000305442.5:p.Asp435= |
| NM_153603.3:c.1305T>C | NP_705831.1:p.Asp435= |
| ENST00000307149.9:c.1305T>C | ENSP00000305442.5:p.Asp435= |
| ENST00000567821.1:n.340T>C | |
| XM_017023870.1:c.1110T>C | XP_016879359.1:p.Asp370= |
| XR_002957852.1:n.1526T>C | |
| XR_429680.1:n.1521T>C | |
| XR_429680.2:n.1526T>C |