Linked Data
ClinVar Variation Id:
60539
dbSNP Id:
rs763562410
ExAC:
4:84185458 C / T
gnomAD v2:
4-84185458-C-T
gnomAD v4:
4-83264305-C-T
PubMed:
PMID:23758206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83264305C>T , CM000666.2:g.83264305C>T | GRCh38 |
| NC_000004.11:g.84185458C>T , CM000666.1:g.84185458C>T | GRCh37 |
| NC_000004.10:g.84404482C>T | NCBI36 |
| NG_015825.1:g.25610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311469.9:c.1160G>A | ENSP00000310873.4:p.Arg387Gln | |
| ENST00000647002.2:c.1010G>A MANE Select | ENSP00000495761.2:p.Arg337Gln | |
| ENST00000311469.8:c.1160G>A | ENSP00000310873.4:p.Arg387Gln | |
| ENST00000503391.5:c.*176-1650G>A | ENSP00000426242.1:n.*176-1650G>A | |
| ENST00000503915.5:c.820G>A | ENSP00000427146.1:n.820G>A | |
| NM_015697.7:c.1160G>A | NP_056512.5:p.Arg387Gln | |
| XM_011531855.1:c.1102-1650G>A | XP_011530157.1:n.1102-1650G>A | |
| XM_011531856.1:c.1102-1650G>A | XP_011530158.1:n.1102-1650G>A | |
| XM_011531857.1:c.1102-1650G>A | XP_011530159.1:n.1102-1650G>A | |
| XM_011531858.1:c.1102-1650G>A | XP_011530160.1:n.1102-1650G>A | |
| XM_011531859.1:c.1102-1650G>A | XP_011530161.1:n.1102-1650G>A | |
| XM_011531860.1:c.1102-1650G>A | XP_011530162.1:n.1102-1650G>A | |
| XM_011531861.1:c.1102-1650G>A | XP_011530163.1:n.1102-1650G>A | |
| XM_011531862.1:c.1102-1650G>A | XP_011530164.1:n.1102-1650G>A | |
| XM_011531863.1:c.1102-1650G>A | XP_011530165.1:n.1102-1650G>A | |
| XM_011531864.1:c.1102-1650G>A | XP_011530166.1:n.1102-1650G>A | |
| XM_011531865.1:c.1102-1650G>A | XP_011530167.1:n.1102-1650G>A | |
| XM_011531866.1:c.1102-1650G>A | XP_011530168.1:n.1102-1650G>A | |
| XM_011531867.1:c.748-1650G>A | XP_011530169.1:n.748-1650G>A | |
| XR_427543.2:n.1438G>A | ||
| NM_001358921.1:c.1010G>A | NP_001345850.1:p.Arg337Gln | |
| NM_015697.8:c.1160G>A | NP_056512.5:p.Arg387Gln | |
| XM_011531855.3:c.952-1650G>A | XP_011530157.2:n.952-1650G>A | |
| XM_011531857.3:c.952-1650G>A | XP_011530159.2:n.952-1650G>A | |
| XM_011531859.3:c.952-1650G>A | XP_011530161.2:n.952-1650G>A | |
| XM_011531860.3:c.952-1650G>A | XP_011530162.2:n.952-1650G>A | |
| XM_011531862.3:c.952-1650G>A | XP_011530164.2:n.952-1650G>A | |
| XM_011531863.3:c.952-1650G>A | XP_011530165.2:n.952-1650G>A | |
| XM_011531866.3:c.952-1650G>A | XP_011530168.2:n.952-1650G>A | |
| XM_011531867.3:c.748-1650G>A | XP_011530169.1:n.748-1650G>A | |
| XM_017008031.2:c.806G>A | XP_016863520.1:p.Arg269Gln | |
| XM_017008032.2:c.361-1650G>A | XP_016863521.1:n.361-1650G>A | |
| XR_001741203.2:n.983-1650G>A | ||
| XR_001741204.2:n.1036G>A | ||
| XR_427543.4:n.1160G>A | ||
| XR_938721.3:n.1155G>A | ||
| NM_001358921.2:c.1010G>A MANE Select | NP_001345850.1:p.Arg337Gln | |
| NM_015697.9:c.1160G>A | NP_056512.5:p.Arg387Gln |