Linked Data
ClinVar Variation Id:
203530
dbSNP Id:
rs796051892
gnomAD v2:
4-124235068-C-T
gnomAD v3:
4-123313913-C-T
gnomAD v4:
4-123313913-C-T
PubMed:
PMID:26299366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.123313913C>T , CM000666.2:g.123313913C>T | GRCh38 |
| NC_000004.11:g.124235068C>T , CM000666.1:g.124235068C>T | GRCh37 |
| NC_000004.10:g.124454518C>T | NCBI36 |
| NG_051570.1:g.395844C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274008.5:c.2531C>T MANE Select | ENSP00000274008.3:p.Ala844Val | |
| ENST00000675612.1:c.2600C>T | ENSP00000502453.1:p.Ala867Val | |
| ENST00000274008.4:c.2531C>T | ENSP00000274008.3:p.Ala844Val | |
| NM_145207.2:c.2531C>T | NP_660208.2:p.Ala844Val | |
| XM_005262783.3:c.2528C>T | XP_005262840.1:p.Ala843Val | |
| XM_011531678.1:c.2600C>T | XP_011529980.1:p.Ala867Val | |
| NM_001345856.1:c.2528C>T | NP_001332785.1:p.Ala843Val | |
| XM_011531678.2:c.2600C>T | XP_011529980.1:p.Ala867Val | |
| XM_017007825.1:c.2603C>T | XP_016863314.1:p.Ala868Val | |
| XM_017007828.1:c.2309C>T | XP_016863317.1:p.Ala770Val | |
| XM_017007829.1:c.2147C>T | XP_016863318.1:p.Ala716Val | |
| XR_001741151.1:n.2689C>T | ||
| NM_145207.3:c.2531C>T MANE Select | NP_660208.2:p.Ala844Val | |
| NM_001345856.2:c.2528C>T | NP_001332785.1:p.Ala843Val |