Linked Data
dbSNP Id:
rs1396485
gnomAD v2:
5-115512352-G-A
gnomAD v3:
5-116176655-G-A
gnomAD v4:
5-116176655-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.116176655G>A , CM000667.2:g.116176655G>A | GRCh38 |
| NC_000005.9:g.115512352G>A , CM000667.1:g.115512352G>A | GRCh37 |
| NC_000005.8:g.115540251G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274458.9:c.510+42477G>A MANE Select | ENSP00000274458.4:n.510+42477G>A | |
| ENST00000274458.8:c.510+42477G>A | ENSP00000274458.4:n.510+42477G>A | |
| ENST00000506589.1:c.267+83955G>A | ENSP00000424611.1:n.267+83955G>A | |
| ENST00000507356.5:c.*85+42477G>A | ENSP00000422448.1:n.*85+42477G>A | |
| ENST00000515539.5:c.468+42477G>A | ENSP00000427319.1:n.468+42477G>A | |
| ENST00000632434.1:c.468+42477G>A | ENSP00000488332.1:n.468+42477G>A | |
| NM_001308080.1:c.468+42477G>A | NP_001295009.1:n.468+42477G>A | |
| NM_016144.2:c.510+42477G>A | NP_057228.1:n.510+42477G>A | |
| NM_016144.3:c.510+42477G>A | NP_057228.1:n.510+42477G>A | |
| XM_011543458.1:c.511-9224G>A | XP_011541760.1:n.511-9224G>A | |
| XM_011543460.1:c.510+42477G>A | XP_011541762.1:n.510+42477G>A | |
| XM_011543461.1:c.511-3747G>A | XP_011541763.1:n.511-3747G>A | |
| XR_948268.1:n.563+42477G>A | ||
| XR_948269.1:n.563+42477G>A | ||
| XR_948270.1:n.563+42477G>A | ||
| XR_948271.1:n.563+42477G>A | ||
| XR_948272.1:n.1919-9224G>A | ||
| NR_146218.1:n.588-9224G>A | ||
| NR_146219.1:n.635-9224G>A | ||
| NR_146220.1:n.588-3747G>A | ||
| XM_011543458.3:c.511-9224G>A | XP_011541760.1:n.511-9224G>A | |
| XM_011543460.3:c.510+42477G>A | XP_011541762.1:n.510+42477G>A | |
| XM_017009553.1:c.468+42477G>A | XP_016865042.1:n.468+42477G>A | |
| XR_001742095.2:n.563+42477G>A | ||
| XR_001742096.2:n.563+42477G>A | ||
| XR_001742097.1:n.563+42477G>A | ||
| XR_001742098.1:n.563+42477G>A | ||
| XR_001742099.2:n.563+42477G>A | ||
| XR_001742100.1:n.563+42477G>A | ||
| XR_001742101.1:n.563+42477G>A | ||
| XR_002956162.1:n.563+42477G>A | ||
| XR_948270.2:n.563+42477G>A | ||
| NM_016144.4:c.510+42477G>A MANE Select | NP_057228.1:n.510+42477G>A | |
| NR_146218.2:n.539-9224G>A | ||
| NR_146220.2:n.539-3747G>A | ||
| NM_001308080.2:c.468+42477G>A | NP_001295009.1:n.468+42477G>A | |
| NR_146219.2:n.635-9224G>A |