Linked Data
ClinVar Variation Id:
710141
ClinVar RCV Id:
RCV000881660
dbSNP Id:
rs112820981
ExAC:
19:14523988 T / C
gnomAD v2:
19-14523988-T-C
gnomAD v3:
19-14413176-T-C
gnomAD v4:
19-14413176-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14413176T>C , CM000681.2:g.14413176T>C | GRCh38 |
| NC_000019.9:g.14523988T>C , CM000681.1:g.14523988T>C | GRCh37 |
| NC_000019.8:g.14384988T>C | NCBI36 |
| NG_029055.1:g.11208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242776.9:c.45A>G MANE Select | ENSP00000242776.3:p.Glu15= | |
| ENST00000242776.8:c.45A>G | ENSP00000242776.3:p.Glu15= | |
| ENST00000324340.13:c.45A>G | ENSP00000322749.8:p.Glu15= | |
| ENST00000454233.6:c.45A>G | ENSP00000392929.2:p.Glu15= | |
| ENST00000586558.5:n.121A>G | ||
| ENST00000586993.5:c.45A>G | ENSP00000464801.1:p.Glu15= | |
| ENST00000588542.5:n.109A>G | ||
| ENST00000588692.5:c.45A>G | ENSP00000467862.1:p.Glu15= | |
| ENST00000589318.5:n.117A>G | ||
| ENST00000589675.5:c.45A>G | ENSP00000467911.1:p.Glu15= | |
| ENST00000590239.5:c.45A>G | ENSP00000466810.1:p.Glu15= | |
| ENST00000590260.5:n.160A>G | ||
| ENST00000590315.5:c.7A>G | ||
| ENST00000590696.1:c.45A>G | ENSP00000467040.1:p.Glu15= | |
| ENST00000591275.5:c.45A>G | ENSP00000465926.1:p.Glu15= | |
| ENST00000592632.5:n.103A>G | ||
| ENST00000593008.1:n.121A>G | ||
| NM_005804.3:c.45A>G | NP_005795.2:p.Glu15= | |
| NR_046366.2:n.163A>G | ||
| XM_006722606.2:c.-756A>G | XP_006722669.1:n.-756A>G | |
| XM_011527620.1:c.45A>G | XP_011525922.1:p.Glu15= | |
| XM_006722606.4:c.-756A>G | XP_006722669.1:n.-756A>G | |
| XM_011527621.3:c.-629A>G | XP_011525923.1:n.-629A>G | |
| XM_024451310.1:c.-892A>G | XP_024307078.1:n.-892A>G | |
| XM_024451311.1:c.-962A>G | XP_024307079.1:n.-962A>G | |
| XM_024451312.1:c.-1089A>G | XP_024307080.1:n.-1089A>G | |
| NM_005804.4:c.45A>G MANE Select | NP_005795.2:p.Glu15= |