gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102226036T>C , CM000670.2:g.102226036T>C | GRCh38 |
| NC_000008.10:g.103238264T>C , CM000670.1:g.103238264T>C | GRCh37 |
| NC_000008.9:g.103307440T>C | NCBI36 |
| NG_016617.1:g.18083A>G , LRG_788:g.18083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.205-2A>G MANE Select | ENSP00000251810.3:n.205-2A>G | |
| ENST00000251810.7:c.205-2A>G | ENSP00000251810.3:n.205-2A>G | |
| ENST00000395912.6:c.49-2A>G | ENSP00000379248.2:n.49-2A>G | |
| ENST00000517517.1:n.514-2A>G | ||
| ENST00000519317.5:c.49-11878A>G | ENSP00000430641.1:n.49-11878A>G | |
| ENST00000519962.5:c.48+12791A>G | ENSP00000429140.1:n.48+12791A>G | |
| ENST00000522368.5:c.374-2A>G | ||
| ENST00000522394.1:c.122+6195A>G | ENSP00000429578.1:n.122+6195A>G | |
| ENST00000523957.1:c.*128-2A>G | ENSP00000427830.1:n.*128-2A>G | |
| ENST00000621845.1:c.43-2A>G | ENSP00000484318.1:n.43-2A>G | |
| NM_001172477.1:c.421-2A>G , LRG_788t1:c.421-2A>G | NP_001165948.1:n.421-2A>G | |
| NM_001172478.1:c.49-2A>G | NP_001165949.1:n.49-2A>G | |
| NM_015713.4:c.205-2A>G , LRG_788t2:c.205-2A>G | NP_056528.2:n.205-2A>G | |
| NM_001172478.2:c.49-2A>G | NP_001165949.1:n.49-2A>G | |
| NM_015713.5:c.205-2A>G MANE Select | NP_056528.2:n.205-2A>G |