Linked Data
ClinVar Variation Id:
5159
dbSNP Id:
rs28939081
ExAC:
7:138394378 C / T
gnomAD v2:
7-138394378-C-T
gnomAD v3:
7-138709633-C-T
gnomAD v4:
7-138709633-C-T
PubMed:
PMID:12414817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138709633C>T , CM000669.2:g.138709633C>T | GRCh38 |
| NC_000007.13:g.138394378C>T , CM000669.1:g.138394378C>T | GRCh37 |
| NC_000007.12:g.138044918C>T | NCBI36 |
| NG_008145.1:g.93564G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.2420G>A MANE Select | ENSP00000308122.2:p.Arg807Gln | |
| ENST00000478480.2:c.1366-2916G>A | ENSP00000495261.1:n.1366-2916G>A | |
| ENST00000644341.1:c.1646G>A | ENSP00000495642.1:p.Arg549Gln | |
| ENST00000645515.1:c.2420G>A | ENSP00000496421.1:p.Arg807Gln | |
| ENST00000647427.1:c.1195G>A | ENSP00000496259.1:n.1195G>A | |
| ENST00000310018.6:c.2420G>A | ENSP00000308122.2:p.Arg807Gln | |
| ENST00000353492.4:c.2420G>A | ENSP00000253856.6:p.Arg807Gln | |
| ENST00000393054.5:c.2420G>A | ENSP00000376774.1:p.Arg807Gln | |
| NM_020632.2:c.2420G>A | NP_065683.2:p.Arg807Gln | |
| NM_130840.2:c.2420G>A | NP_570855.2:p.Arg807Gln | |
| NM_130841.2:c.2420G>A | NP_570856.2:p.Arg807Gln | |
| XM_005250393.1:c.2420G>A | XP_005250450.1:p.Arg807Gln | |
| XM_005250394.2:c.2420G>A | XP_005250451.1:p.Arg807Gln | |
| XM_005250394.3:c.2420G>A | XP_005250451.1:p.Arg807Gln | |
| NM_020632.3:c.2420G>A MANE Select | NP_065683.2:p.Arg807Gln | |
| NM_130840.3:c.2420G>A | NP_570855.2:p.Arg807Gln | |
| NM_130841.3:c.2420G>A | NP_570856.2:p.Arg807Gln |