Linked Data
ClinVar Variation Id:
506866
dbSNP Id:
rs770275231
ExAC:
6:151751332 G / C
gnomAD v2:
6-151751332-G-C
gnomAD v3:
6-151430197-G-C
gnomAD v4:
6-151430197-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151430197G>C , CM000668.2:g.151430197G>C | GRCh38 |
| NC_000006.11:g.151751332G>C , CM000668.1:g.151751332G>C | GRCh37 |
| NC_000006.10:g.151793025G>C | NCBI36 |
| NG_033031.1:g.26985C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644054.2:c.696C>G | ENSP00000496328.2:p.Phe232Leu | |
| ENST00000646926.2:c.690-20C>G | ENSP00000494215.2:n.690-20C>G | |
| ENST00000682004.1:n.861-20C>G | ||
| ENST00000682299.1:c.690-20C>G | ENSP00000506811.1:n.690-20C>G | |
| ENST00000682392.1:c.690-20C>G | ENSP00000508314.1:n.690-20C>G | |
| ENST00000682641.1:c.690-20C>G | ENSP00000506793.1:n.690-20C>G | |
| ENST00000682760.1:n.835-20C>G | ||
| ENST00000683439.1:n.835-20C>G | ||
| ENST00000683724.1:c.690-20C>G | ENSP00000507984.1:n.690-20C>G | |
| ENST00000683740.1:n.835-20C>G | ||
| ENST00000684301.1:c.*89-20C>G | ENSP00000507824.1:n.*89-20C>G | |
| ENST00000684605.1:n.1230-20C>G | ||
| ENST00000684658.1:n.835-20C>G | ||
| ENST00000684715.1:n.835-20C>G | ||
| ENST00000684765.1:c.690-20C>G | ENSP00000507910.1:n.690-20C>G | |
| ENST00000336451.8:c.*89-20C>G | ENSP00000336683.4:n.*89-20C>G | |
| ENST00000444024.3:c.690-20C>G MANE Select | ENSP00000412708.2:n.690-20C>G | |
| ENST00000622845.5:c.180-20C>G | ENSP00000481280.1:n.180-20C>G | |
| ENST00000643550.1:n.484-20C>G | ||
| ENST00000644054.1:c.593C>G | ||
| ENST00000644711.1:c.690-20C>G | ENSP00000494106.1:n.690-20C>G | |
| ENST00000645367.1:n.834-20C>G | ||
| ENST00000645895.1:n.807-20C>G | ||
| ENST00000646926.1:c.98-20C>G | ||
| ENST00000336451.7:c.57-20C>G | ENSP00000336683.3:n.57-20C>G | |
| ENST00000367303.8:c.690-20C>G | ENSP00000356272.4:n.690-20C>G | |
| ENST00000444024.1:c.180-20C>G | ENSP00000412708.1:n.180-20C>G | |
| ENST00000622845.4:c.180-20C>G | ENSP00000481280.1:n.180-20C>G | |
| NM_001271937.1:c.180-20C>G | NP_001258866.1:n.180-20C>G | |
| NM_017909.3:c.690-20C>G | NP_060379.2:n.690-20C>G | |
| XM_005267040.2:c.57-20C>G | XP_005267097.1:n.57-20C>G | |
| XR_942497.1:n.870-20C>G | ||
| XM_005267040.4:c.57-20C>G | XP_005267097.1:n.57-20C>G | |
| XM_017010988.2:c.57-20C>G | XP_016866477.1:n.57-20C>G | |
| XR_001743503.2:n.858-20C>G | ||
| XR_002956288.1:n.815-20C>G | ||
| NM_017909.4:c.690-20C>G MANE Select | NP_060379.2:n.690-20C>G | |
| NM_001271937.2:c.180-20C>G | NP_001258866.1:n.180-20C>G |