Linked Data
dbSNP Id:
rs17002034
gnomAD v2:
22-40996367-G-T
gnomAD v3:
22-40600363-G-T
gnomAD v4:
22-40600363-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40600363G>T , CM000684.2:g.40600363G>T | GRCh38 |
| NC_000022.10:g.40996367G>T , CM000684.1:g.40996367G>T | GRCh37 |
| NC_000022.9:g.39326313G>T | NCBI36 |
| NG_065810.1:g.41357C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355630.10:c.-83-5628C>A MANE Select | ENSP00000347847.5:n.-83-5628C>A | |
| ENST00000402042.7:c.-83-5628C>A | ENSP00000385584.3:n.-83-5628C>A | |
| ENST00000463769.7:c.-22+36115C>A | ENSP00000498788.2:n.-22+36115C>A | |
| ENST00000650658.1:n.172+36115C>A | ||
| ENST00000651158.1:n.222-12785C>A | ||
| ENST00000651595.2:c.-83-5628C>A | ENSP00000498277.2:n.-83-5628C>A | |
| ENST00000355630.7:c.-383-5628C>A | ENSP00000347847.3:n.-383-5628C>A | |
| ENST00000396617.7:c.-383-5628C>A | ENSP00000379861.3:n.-383-5628C>A | |
| ENST00000402042.5:c.-383-5628C>A | ENSP00000385584.1:n.-383-5628C>A | |
| ENST00000463769.6:n.210+36115C>A | ||
| ENST00000466278.1:n.226-5628C>A | ||
| NM_001282661.1:c.-383-5628C>A | NP_001269590.1:n.-383-5628C>A | |
| NM_001282662.1:c.-383-5628C>A | NP_001269591.1:n.-383-5628C>A | |
| NM_020831.4:c.-383-5628C>A | NP_065882.1:n.-383-5628C>A | |
| XM_005261694.1:c.-322+36115C>A | XP_005261751.1:n.-322+36115C>A | |
| XM_011530283.1:c.-451-5628C>A | XP_011528585.1:n.-451-5628C>A | |
| XM_011530285.1:c.-566-5628C>A | XP_011528587.1:n.-566-5628C>A | |
| XM_011530286.1:c.-978-5628C>A | XP_011528588.1:n.-978-5628C>A | |
| NM_001282661.2:c.-83-5628C>A | NP_001269590.2:n.-83-5628C>A | |
| NM_001282662.2:c.-83-5628C>A | NP_001269591.2:n.-83-5628C>A | |
| NM_020831.5:c.-83-5628C>A | NP_065882.2:n.-83-5628C>A | |
| XM_017028888.2:c.-390+36115C>A | XP_016884377.1:n.-390+36115C>A | |
| NM_001282661.3:c.-83-5628C>A | NP_001269590.2:n.-83-5628C>A | |
| NM_001282662.3:c.-83-5628C>A | NP_001269591.2:n.-83-5628C>A | |
| NM_020831.6:c.-83-5628C>A MANE Select | NP_065882.2:n.-83-5628C>A |