Linked Data
dbSNP Id:
rs1162356302
gnomAD v2:
2-3596665-G-C
gnomAD v3:
2-3549075-G-C
gnomAD v4:
2-3549075-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3549075G>C , CM000664.2:g.3549075G>C | GRCh38 |
| NC_000002.11:g.3596665G>C , CM000664.1:g.3596665G>C | GRCh37 |
| NC_000002.10:g.3574540G>C | NCBI36 |
| NG_051310.1:g.14297C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315212.4:c.547C>G MANE Select | ENSP00000313350.3:p.Gln183Glu | |
| ENST00000654051.1:c.547C>G | ENSP00000499604.1:p.Gln183Glu | |
| ENST00000658393.1:c.547C>G | ENSP00000499330.1:p.Gln183Glu | |
| ENST00000315212.3:c.547C>G | ENSP00000313350.3:p.Gln183Glu | |
| ENST00000436842.5:c.*653C>G | ENSP00000404926.1:n.*653C>G | |
| NM_001286834.1:c.469C>G | NP_001273763.1:p.Gln157Glu | |
| NM_001286837.1:c.196C>G | NP_001273766.1:p.Gln66Glu | |
| NM_002936.4:c.547C>G | NP_002927.2:p.Gln183Glu | |
| XR_244873.1:n.654C>G | ||
| XR_922665.1:n.654C>G | ||
| XR_922666.1:n.654C>G | ||
| XR_922667.1:n.654C>G | ||
| XR_922668.1:n.654C>G | ||
| XR_922669.1:n.654C>G | ||
| XR_922670.1:n.654C>G | ||
| XR_922671.1:n.654C>G | ||
| XR_922672.1:n.654C>G | ||
| XR_922673.1:n.654C>G | ||
| XR_922674.1:n.654C>G | ||
| NM_001286834.2:c.469C>G | NP_001273763.1:p.Gln157Glu | |
| NM_001286837.2:c.196C>G | NP_001273766.1:p.Gln66Glu | |
| NM_002936.5:c.547C>G | NP_002927.2:p.Gln183Glu | |
| NR_148532.1:n.658C>G | ||
| NR_148533.1:n.658C>G | ||
| NR_148534.1:n.658C>G | ||
| NM_001286837.3:c.196C>G | NP_001273766.1:p.Gln66Glu | |
| NR_148532.2:n.620C>G | ||
| NR_148533.2:n.620C>G | ||
| NR_148534.2:n.620C>G | ||
| NM_001286834.3:c.469C>G | NP_001273763.1:p.Gln157Glu | |
| NM_001378271.1:c.547C>G | NP_001365200.1:p.Gln183Glu | |
| NM_001378272.1:c.544C>G | NP_001365201.1:p.Gln182Glu | |
| NM_001378273.1:c.532C>G | NP_001365202.1:p.Gln178Glu | |
| NM_002936.6:c.547C>G MANE Select | NP_002927.2:p.Gln183Glu | |
| NR_165465.1:n.504C>G | ||
| NR_165466.1:n.589C>G | ||
| NR_165467.1:n.789C>G | ||
| NR_165468.1:n.592C>G |