Linked Data
ClinVar Variation Id:
1624527
ClinVar RCV Id:
RCV002114078
dbSNP Id:
rs184047031
ExAC:
13:43155366 T / C
gnomAD v2:
13-43155366-T-C
gnomAD v3:
13-42581230-T-C
gnomAD v4:
13-42581230-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42581230T>C , CM000675.2:g.42581230T>C | GRCh38 |
| NC_000013.10:g.43155366T>C , CM000675.1:g.43155366T>C | GRCh37 |
| NC_000013.9:g.42053366T>C | NCBI36 |
| NG_008990.1:g.23495T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.324T>C MANE Select | ENSP00000381775.3:p.Asp108= | |
| ENST00000239849.8:c.183T>C | ENSP00000239849.7:p.Asp61= | |
| ENST00000358545.6:c.105T>C | ENSP00000351347.2:p.Asp35= | |
| ENST00000398795.6:c.324T>C | ENSP00000381775.3:p.Asp108= | |
| ENST00000405262.6:c.105T>C | ENSP00000384042.2:p.Asp35= | |
| ENST00000544862.5:c.105T>C | ENSP00000444913.1:p.Asp35= | |
| NM_003701.3:c.324T>C | NP_003692.1:p.Asp108= | |
| NM_033012.3:c.105T>C | NP_143026.1:p.Asp35= | |
| XM_011535280.1:c.105T>C | XP_011533582.1:p.Asp35= | |
| XM_011535280.2:c.105T>C | XP_011533582.1:p.Asp35= | |
| XM_017020802.1:c.162T>C | XP_016876291.1:p.Asp54= | |
| XM_017020803.2:c.105T>C | XP_016876292.1:p.Asp35= | |
| NM_003701.4:c.324T>C MANE Select | NP_003692.1:p.Asp108= | |
| NM_033012.4:c.105T>C | NP_143026.1:p.Asp35= |