Linked Data
ClinVar Variation Id:
36192
dbSNP Id:
rs140672134
ExAC:
7:44184848 T / G
gnomAD v2:
7-44184848-T-G
gnomAD v4:
7-44145249-T-G
ERepo:
CA213745/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145249T>G , CM000669.2:g.44145249T>G | GRCh38 |
| NC_000007.13:g.44184848T>G , CM000669.1:g.44184848T>G | GRCh37 |
| NC_000007.12:g.44151373T>G | NCBI36 |
| NG_008847.1:g.49175A>C | |
| NG_008847.2:g.57922A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1283A>C | ENSP00000379142.4:n.*1283A>C | |
| ENST00000616242.5:c.*405A>C | ENSP00000482149.2:n.*405A>C | |
| ENST00000683378.1:n.511A>C | ||
| ENST00000336642.9:c.319A>C | ENSP00000338009.5:p.Arg107= | |
| ENST00000345378.7:c.1288A>C | ENSP00000223366.2:p.Arg430= | |
| ENST00000403799.8:c.1285A>C MANE Select | ENSP00000384247.3:p.Arg429= | |
| ENST00000671824.1:c.1348A>C | ENSP00000500264.1:p.Arg450= | |
| ENST00000672743.1:n.297A>C | ||
| ENST00000673284.1:c.1285A>C | ENSP00000499852.1:p.Arg429= | |
| ENST00000336642.8:c.337A>C | ENSP00000338009.4:p.Arg113= | |
| ENST00000345378.6:c.1288A>C | ENSP00000223366.2:p.Arg430= | |
| ENST00000395796.7:c.1282A>C | ENSP00000379142.3:p.Arg428= | |
| ENST00000403799.7:c.1285A>C | ENSP00000384247.3:p.Arg429= | |
| ENST00000437084.1:c.1234A>C | ENSP00000402840.1:p.Arg412= | |
| ENST00000459642.1:n.665A>C | ||
| ENST00000616242.4:c.1282A>C | ENSP00000482149.1:p.Arg428= | |
| NM_000162.3:c.1285A>C | NP_000153.1:p.Arg429= | |
| NM_033507.1:c.1288A>C | NP_277042.1:p.Arg430= | |
| NM_033508.1:c.1282A>C | NP_277043.1:p.Arg428= | |
| NM_000162.4:c.1285A>C | NP_000153.1:p.Arg429= | |
| NM_001354800.1:c.1285A>C | NP_001341729.1:p.Arg429= | |
| NM_001354801.1:c.274A>C | NP_001341730.1:p.Arg92= | |
| NM_001354802.1:c.145A>C | NP_001341731.1:p.Arg49= | |
| NM_001354803.1:c.319A>C | NP_001341732.1:p.Arg107= | |
| NM_033507.2:c.1288A>C | NP_277042.1:p.Arg430= | |
| NM_033508.2:c.1282A>C | NP_277043.1:p.Arg428= | |
| XM_024446707.1:c.145A>C | XP_024302475.1:p.Arg49= | |
| NM_000162.5:c.1285A>C MANE Select | NP_000153.1:p.Arg429= | |
| NM_033507.3:c.1288A>C | NP_277042.1:p.Arg430= | |
| NM_033508.3:c.1282A>C | NP_277043.1:p.Arg428= | |
| NM_001354803.2:c.319A>C | NP_001341732.1:p.Arg107= |