Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027550C>T , CM000663.2:g.17027550C>T | GRCh38 |
| NC_000001.10:g.17354045C>T , CM000663.1:g.17354045C>T | GRCh37 |
| NC_000001.9:g.17226632C>T | NCBI36 |
| NG_012340.1:g.31621G>A , LRG_316:g.31621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.369+199G>A | ENSP00000481376.2:n.369+199G>A | |
| ENST00000491274.6:c.498+199G>A | ENSP00000480482.2:n.498+199G>A | |
| ENST00000375499.8:c.540+199G>A MANE Select | ENSP00000364649.3:n.540+199G>A | |
| ENST00000375499.7:c.540+199G>A | ENSP00000364649.3:n.540+199G>A | |
| ENST00000485515.5:n.474+199G>A | ||
| ENST00000491274.5:c.498+199G>A | ENSP00000480482.1:n.498+199G>A | |
| NM_003000.2:c.540+199G>A , LRG_316t1:c.540+199G>A | NP_002991.2:n.540+199G>A | |
| NM_003000.3:c.540+199G>A MANE Select | NP_002991.2:n.540+199G>A |