Linked Data
dbSNP Id:
rs1364705
gnomAD v2:
8-120224806-A-G
gnomAD v3:
8-119212566-A-G
gnomAD v4:
8-119212566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119212566A>G , CM000670.2:g.119212566A>G | GRCh38 |
| NC_000008.10:g.120224806A>G , CM000670.1:g.120224806A>G | GRCh37 |
| NC_000008.9:g.120293987A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614891.5:c.132+3962A>G MANE Select | ENSP00000479708.1:n.132+3962A>G | |
| ENST00000522112.6:c.-72-9021A>G | ENSP00000483044.1:n.-72-9021A>G | |
| ENST00000531508.1:c.-73+3366A>G | ENSP00000484544.1:n.-73+3366A>G | |
| ENST00000534619.5:c.-73+4473A>G | ENSP00000482729.1:n.-73+4473A>G | |
| ENST00000614891.4:c.132+3962A>G | ENSP00000479708.1:n.132+3962A>G | |
| NM_052886.2:c.132+3962A>G | NP_443118.1:n.132+3962A>G | |
| XM_011516807.1:c.132+3962A>G | XP_011515109.1:n.132+3962A>G | |
| XM_011516807.2:c.132+3962A>G | XP_011515109.1:n.132+3962A>G | |
| NM_052886.3:c.132+3962A>G MANE Select | NP_443118.1:n.132+3962A>G |