Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17603810C>A , CM000670.2:g.17603810C>A | GRCh38 |
| NC_000008.10:g.17461319C>A , CM000670.1:g.17461319C>A | GRCh37 |
| NC_000008.9:g.17505596C>A | NCBI36 |
| NG_023332.1:g.32378C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251630.11:c.353+14045C>A MANE Select | ENSP00000251630.4:n.353+14045C>A | |
| ENST00000673645.1:c.353+14045C>A | ENSP00000501219.1:n.353+14045C>A | |
| ENST00000251630.10:c.353+14045C>A | ENSP00000251630.4:n.353+14045C>A | |
| ENST00000541323.1:c.353+14045C>A | ENSP00000444211.1:n.353+14045C>A | |
| NM_006207.2:c.353+14045C>A | NP_006198.1:n.353+14045C>A | |
| XM_011544558.1:c.353+14045C>A | XP_011542860.1:n.353+14045C>A | |
| NM_001372073.1:c.353+14045C>A MANE Select | NP_001359002.1:n.353+14045C>A |