gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160722576T>G , CM000668.2:g.160722576T>G | GRCh38 |
| NC_000006.11:g.161143608T>G , CM000668.1:g.161143608T>G | GRCh37 |
| NC_000006.10:g.161063598T>G | NCBI36 |
| NG_016200.1:g.25384T>G , LRG_571:g.25384T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.209+9T>G | ENSP00000516619.1:n.209+9T>G | |
| ENST00000418964.2:c.1307+9T>G | ENSP00000389424.2:n.1307+9T>G | |
| ENST00000706906.1:c.1256+9T>G | ENSP00000516618.1:n.1256+9T>G | |
| ENST00000308192.14:c.1256+9T>G MANE Select | ENSP00000308938.9:n.1256+9T>G | |
| ENST00000297289.8:n.254+9T>G | ||
| ENST00000308192.13:c.1256+9T>G | ENSP00000308938.9:n.1256+9T>G | |
| NM_000301.3:c.1256+9T>G , LRG_571t1:c.1256+9T>G | NP_000292.1:n.1256+9T>G | |
| NM_000301.4:c.1256+9T>G | NP_000292.1:n.1256+9T>G | |
| NM_000301.5:c.1256+9T>G MANE Select | NP_000292.1:n.1256+9T>G |