Linked Data
dbSNP Id:
rs891786344
gnomAD v2:
6-1918206-T-C
gnomAD v3:
6-1917972-T-C
gnomAD v4:
6-1917972-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1917972T>C , CM000668.2:g.1917972T>C | GRCh38 |
| NC_000006.11:g.1918206T>C , CM000668.1:g.1918206T>C | GRCh37 |
| NC_000006.10:g.1863205T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380815.5:c.771+12131A>G MANE Select | ENSP00000370194.4:n.771+12131A>G | |
| ENST00000380805.6:n.897+12131A>G | ||
| ENST00000380815.4:c.771+12131A>G | ENSP00000370194.4:n.771+12131A>G | |
| ENST00000530927.5:c.681+12131A>G | ENSP00000436726.1:n.681+12131A>G | |
| ENST00000531690.5:n.250+12131A>G | ||
| NM_001253846.1:c.681+12131A>G | NP_001240775.1:n.681+12131A>G | |
| NM_001500.3:c.771+12131A>G | NP_001491.1:n.771+12131A>G | |
| XM_006715066.1:c.772-7985A>G | XP_006715129.1:n.772-7985A>G | |
| XM_011514500.1:c.681+12131A>G | XP_011512802.1:n.681+12131A>G | |
| XM_011514501.1:c.771+12131A>G | XP_011512803.1:n.771+12131A>G | |
| XM_011514502.1:c.771+12131A>G | XP_011512804.1:n.771+12131A>G | |
| XM_011514507.1:c.643+41895A>G | XP_011512809.1:n.643+41895A>G | |
| XM_006715066.3:c.772-7985A>G | XP_006715129.1:n.772-7985A>G | |
| XM_011514502.3:c.771+12131A>G | XP_011512804.1:n.771+12131A>G | |
| XM_011514507.2:c.643+41895A>G | XP_011512809.1:n.643+41895A>G | |
| XM_017010752.1:c.510+12131A>G | XP_016866241.1:n.510+12131A>G | |
| XR_001743349.2:n.954+12131A>G | ||
| XR_001743350.2:n.955-7985A>G | ||
| NM_001500.4:c.771+12131A>G MANE Select | NP_001491.1:n.771+12131A>G | |
| NM_001253846.2:c.681+12131A>G | NP_001240775.1:n.681+12131A>G |