gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7530818A>G , CM000667.2:g.7530818A>G | GRCh38 |
| NC_000005.9:g.7530931A>G , CM000667.1:g.7530931A>G | GRCh37 |
| NC_000005.8:g.7583931A>G | NCBI36 |
| NG_046913.1:g.139589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.570+9919A>G MANE Select | ENSP00000342952.4:n.570+9919A>G | |
| ENST00000338316.8:c.570+9919A>G | ENSP00000342952.4:n.570+9919A>G | |
| ENST00000498598.1:n.269+9919A>G | ||
| ENST00000537121.5:c.565+9919A>G | ENSP00000444803.2:n.565+9919A>G | |
| NM_020546.2:c.570+9919A>G | NP_065433.2:n.570+9919A>G | |
| XM_011513942.1:c.570+9919A>G | XP_011512244.1:n.570+9919A>G | |
| XR_427657.2:n.584+9919A>G | ||
| XM_011513942.2:c.570+9919A>G | XP_011512244.1:n.570+9919A>G | |
| XR_001741973.1:n.584+9919A>G | ||
| XR_001741974.2:n.584+9919A>G | ||
| NM_020546.3:c.570+9919A>G MANE Select | NP_065433.2:n.570+9919A>G |