Linked Data
dbSNP Id:
rs746393801
ExAC:
5:80502745 A / G
gnomAD v2:
5-80502745-A-G
gnomAD v3:
5-81206926-A-G
gnomAD v4:
5-81206926-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206926A>G , CM000667.2:g.81206926A>G | GRCh38 |
| NC_000005.9:g.80502745A>G , CM000667.1:g.80502745A>G | GRCh37 |
| NC_000005.8:g.80538501A>G | NCBI36 |
| NG_030334.1:g.251238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2967+21A>G MANE Select | ENSP00000265080.4:n.2967+21A>G | |
| ENST00000265080.8:c.2967+21A>G | ENSP00000265080.4:n.2967+21A>G | |
| ENST00000503795.1:c.2967+21A>G | ENSP00000421771.1:n.2967+21A>G | |
| NM_006909.2:c.2967+21A>G | NP_008840.1:n.2967+21A>G | |
| XM_017009682.2:c.2682+21A>G | XP_016865171.1:n.2682+21A>G | |
| XR_002956166.1:n.3083+21A>G | ||
| NM_006909.3:c.2967+21A>G MANE Select | NP_008840.1:n.2967+21A>G |