Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618451A>G , CM000664.2:g.233618451A>G | GRCh38 |
| NC_000002.11:g.234527097A>G , CM000664.1:g.234527097A>G | GRCh37 |
| NC_000002.10:g.234191836A>G | NCBI36 |
| NG_002601.2:g.33708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.744A>G MANE Select | ENSP00000362549.4:p.Thr248= | |
| ENST00000373450.4:c.744A>G | ENSP00000362549.4:p.Thr248= | |
| NM_019076.4:c.744A>G | NP_061949.3:p.Thr248= | |
| NM_019076.5:c.744A>G MANE Select | NP_061949.3:p.Thr248= |