Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186676356A>C , CM000663.2:g.186676356A>C | GRCh38 |
| NC_000001.10:g.186645488A>C , CM000663.1:g.186645488A>C | GRCh37 |
| NC_000001.9:g.184912111A>C | NCBI36 |
| NG_028206.2:g.9072T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.970+111T>G MANE Select | ENSP00000356438.5:n.970+111T>G | |
| ENST00000680451.1:c.970+111T>G | ENSP00000506242.1:n.970+111T>G | |
| ENST00000681605.1:c.*642+111T>G | ENSP00000504900.1:n.*642+111T>G | |
| ENST00000367468.9:c.970+111T>G | ENSP00000356438.5:n.970+111T>G | |
| ENST00000490885.6:n.1214T>G | ||
| ENST00000559627.1:c.860+111T>G | ENSP00000454130.1:n.860+111T>G | |
| NM_000963.3:c.970+111T>G | NP_000954.1:n.970+111T>G | |
| NM_000963.4:c.970+111T>G MANE Select | NP_000954.1:n.970+111T>G |