Linked Data
dbSNP Id:
rs17848916
gnomAD v2:
2-162904384-A-C
gnomAD v3:
2-162047874-A-C
gnomAD v4:
2-162047874-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162047874A>C , CM000664.2:g.162047874A>C | GRCh38 |
| NC_000002.11:g.162904384A>C , CM000664.1:g.162904384A>C | GRCh37 |
| NC_000002.10:g.162612630A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360534.8:c.95-373T>G MANE Select | ENSP00000353731.3:n.95-373T>G | |
| ENST00000416189.6:c.95-373T>G | ENSP00000401359.2:n.95-373T>G | |
| ENST00000461836.6:n.576-373T>G | ||
| ENST00000494507.2:c.95-373T>G | ENSP00000503735.1:n.95-373T>G | |
| ENST00000676479.1:c.231-373T>G | ENSP00000504273.1:n.231-373T>G | |
| ENST00000676624.1:c.95-376T>G | ENSP00000503481.1:n.95-376T>G | |
| ENST00000676768.1:c.95-373T>G | ENSP00000503008.1:n.95-373T>G | |
| ENST00000676810.1:c.95-376T>G | ENSP00000503161.1:n.95-376T>G | |
| ENST00000676996.1:n.89-373T>G | ||
| ENST00000677212.1:n.116-373T>G | ||
| ENST00000678522.1:n.116-373T>G | ||
| ENST00000678566.1:c.95-373T>G | ENSP00000502931.1:n.95-373T>G | |
| ENST00000678668.1:c.-782-373T>G | ENSP00000504418.1:n.-782-373T>G | |
| ENST00000678740.1:n.116-376T>G | ||
| ENST00000679104.1:c.95-373T>G | ENSP00000504157.1:n.95-373T>G | |
| ENST00000360534.7:c.95-373T>G | ENSP00000353731.3:n.95-373T>G | |
| ENST00000413651.3:c.95-373T>G | ENSP00000410264.1:n.95-373T>G | |
| ENST00000434918.6:c.95-376T>G | ENSP00000402259.2:n.95-376T>G | |
| ENST00000461836.5:n.66-373T>G | ||
| ENST00000490286.5:n.89-373T>G | ||
| ENST00000497461.5:n.199-373T>G | ||
| ENST00000628861.1:c.95-373T>G | ENSP00000486421.1:n.95-373T>G | |
| NM_001935.3:c.95-373T>G | NP_001926.2:n.95-373T>G | |
| XM_005246371.2:c.95-376T>G | XP_005246428.1:n.95-376T>G | |
| XM_005246371.3:c.95-376T>G | XP_005246428.1:n.95-376T>G | |
| NM_001935.4:c.95-373T>G MANE Select | NP_001926.2:n.95-373T>G | |
| NM_001379604.1:c.95-376T>G | NP_001366533.1:n.95-376T>G | |
| NM_001379605.1:c.92-376T>G | NP_001366534.1:n.92-376T>G | |
| NM_001379606.1:c.95-373T>G | NP_001366535.1:n.95-373T>G | |
| NR_166822.1:n.329-376T>G | ||
| NR_166823.1:n.465-373T>G | ||
| NR_166824.1:n.329-373T>G | ||
| NR_166825.1:n.329-373T>G |