Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43929088T>G , CM000684.2:g.43929088T>G | GRCh38 |
| NC_000022.10:g.44324968T>G , CM000684.1:g.44324968T>G | GRCh37 |
| NC_000022.9:g.42656301T>G | NCBI36 |
| NG_008631.1:g.10350T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.486+199T>G MANE Select | ENSP00000216180.3:n.486+199T>G | |
| ENST00000216180.7:c.486+199T>G | ENSP00000216180.3:n.486+199T>G | |
| ENST00000406117.6:c.*118+199T>G | ENSP00000384668.2:n.*118+199T>G | |
| ENST00000423180.2:c.474+199T>G | ENSP00000397987.2:n.474+199T>G | |
| ENST00000478713.1:n.520+199T>G | ||
| NM_025225.2:c.486+199T>G | NP_079501.2:n.486+199T>G | |
| NM_025225.3:c.486+199T>G MANE Select | NP_079501.2:n.486+199T>G |