Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204161434A>G , CM000663.2:g.204161434A>G | GRCh38 |
| NC_000001.10:g.204130562A>G , CM000663.1:g.204130562A>G | GRCh37 |
| NC_000001.9:g.202397185A>G | NCBI36 |
| NG_012122.1:g.9904T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.250-19T>C MANE Select | ENSP00000272190.8:n.250-19T>C | |
| ENST00000638118.1:c.136-19T>C | ENSP00000490307.1:n.136-19T>C | |
| ENST00000272190.8:c.250-19T>C | ENSP00000272190.8:n.250-19T>C | |
| NM_000537.3:c.250-19T>C | NP_000528.1:n.250-19T>C | |
| NM_000537.4:c.250-19T>C MANE Select | NP_000528.1:n.250-19T>C |