Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192810097T>C , CM000663.2:g.192810097T>C | GRCh38 |
| NC_000001.10:g.192779227T>C , CM000663.1:g.192779227T>C | GRCh37 |
| NC_000001.9:g.191045850T>C | NCBI36 |
| NG_012800.1:g.6059T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.111-69T>C MANE Select | ENSP00000235382.5:n.111-69T>C | |
| ENST00000235382.6:c.111-69T>C | ENSP00000235382.5:n.111-69T>C | |
| ENST00000464302.1:n.141-69T>C | ||
| ENST00000483295.1:n.144-69T>C | ||
| ENST00000487236.1:n.118-69T>C | ||
| NM_002923.3:c.111-69T>C | NP_002914.1:n.111-69T>C | |
| NM_002923.4:c.111-69T>C MANE Select | NP_002914.1:n.111-69T>C |