Linked Data
ClinVar Variation Id:
294478
dbSNP Id:
rs140356702
ExAC:
1:196621212 G / C
gnomAD v2:
1-196621212-G-C
gnomAD v3:
1-196652082-G-C
gnomAD v4:
1-196652082-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196652082G>C , CM000663.2:g.196652082G>C | GRCh38 |
| NC_000001.10:g.196621212G>C , CM000663.1:g.196621212G>C | GRCh37 |
| NC_000001.9:g.194887835G>C | NCBI36 |
| NG_007259.1:g.5072G>C , LRG_47:g.5072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359637.3:c.-36G>C | ENSP00000352658.2:n.-36G>C | |
| ENST00000470918.2:n.231G>C | ||
| ENST00000496761.2:n.28G>C | ||
| ENST00000695968.1:c.-36G>C | ENSP00000512295.1:n.-36G>C | |
| ENST00000695969.1:c.-36G>C | ENSP00000512296.1:n.-36G>C | |
| ENST00000695970.1:c.-36G>C | ENSP00000512297.1:n.-36G>C | |
| ENST00000695971.1:c.-36G>C | ENSP00000512298.1:n.-36G>C | |
| ENST00000695972.1:c.-36G>C | ENSP00000512299.1:n.-36G>C | |
| ENST00000695973.1:c.-36G>C | ENSP00000512300.1:n.-36G>C | |
| ENST00000695974.1:c.-36G>C | ENSP00000512301.1:n.-36G>C | |
| ENST00000695975.1:c.-36G>C | ENSP00000512302.1:n.-36G>C | |
| ENST00000695976.1:c.-279G>C | ENSP00000512303.1:n.-279G>C | |
| ENST00000695978.1:c.-36G>C | ENSP00000512304.1:n.-36G>C | |
| ENST00000695979.1:c.-36G>C | ENSP00000512305.1:n.-36G>C | |
| ENST00000695980.1:n.85G>C | ||
| ENST00000695981.1:c.-36G>C | ENSP00000512306.1:n.-36G>C | |
| ENST00000695983.1:c.-36G>C | ENSP00000512308.1:n.-36G>C | |
| ENST00000695984.1:c.-36G>C | ENSP00000512309.1:n.-36G>C | |
| ENST00000695986.1:c.-36G>C | ENSP00000512311.1:n.-36G>C | |
| ENST00000696018.1:n.49G>C | ||
| ENST00000696019.1:n.49G>C | ||
| ENST00000696020.1:n.49G>C | ||
| ENST00000696021.1:n.49G>C | ||
| ENST00000696022.1:n.49G>C | ||
| ENST00000696023.1:c.-36G>C | ENSP00000512334.1:n.-36G>C | |
| ENST00000696024.1:n.49G>C | ||
| ENST00000696025.1:n.49G>C | ||
| ENST00000696026.1:c.-36G>C | ENSP00000512335.1:n.-36G>C | |
| ENST00000696027.1:c.-36G>C | ENSP00000512336.1:n.-36G>C | |
| ENST00000696028.1:c.-36G>C | ENSP00000512337.1:n.-36G>C | |
| ENST00000696029.1:c.-36G>C | ENSP00000512338.1:n.-36G>C | |
| ENST00000696030.1:c.-36G>C | ENSP00000512339.1:n.-36G>C | |
| ENST00000696031.1:c.-36G>C | ENSP00000512340.1:n.-36G>C | |
| ENST00000696032.1:c.-36G>C | ENSP00000512341.1:n.-36G>C | |
| ENST00000696033.1:c.-36G>C | ENSP00000512342.1:n.-36G>C | |
| ENST00000367429.9:c.-36G>C MANE Select | ENSP00000356399.4:n.-36G>C | |
| ENST00000359637.2:c.-36G>C | ENSP00000352658.2:n.-36G>C | |
| ENST00000367429.8:c.-36G>C | ENSP00000356399.4:n.-36G>C | |
| ENST00000496761.1:n.27G>C | ||
| ENST00000630130.2:c.-36G>C | ENSP00000487250.1:n.-36G>C | |
| NM_000186.3:c.-36G>C , LRG_47t1:c.-36G>C | NP_000177.2:n.-36G>C | |
| NM_001014975.2:c.-36G>C | NP_001014975.1:n.-36G>C | |
| XM_017001108.2:c.-36G>C | XP_016856597.1:n.-36G>C | |
| XR_001737134.2:n.50G>C | ||
| NM_000186.4:c.-36G>C MANE Select | NP_000177.2:n.-36G>C | |
| NM_001014975.3:c.-36G>C | NP_001014975.1:n.-36G>C |