Linked Data
dbSNP Id:
rs774461567
ExAC:
2:3596694 C / G
gnomAD v2:
2-3596694-C-G
gnomAD v4:
2-3549104-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3549104C>G , CM000664.2:g.3549104C>G | GRCh38 |
| NC_000002.11:g.3596694C>G , CM000664.1:g.3596694C>G | GRCh37 |
| NC_000002.10:g.3574569C>G | NCBI36 |
| NG_051310.1:g.14268G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315212.4:c.518G>C MANE Select | ENSP00000313350.3:p.Gly173Ala | |
| ENST00000654051.1:c.518G>C | ENSP00000499604.1:p.Gly173Ala | |
| ENST00000658393.1:c.518G>C | ENSP00000499330.1:p.Gly173Ala | |
| ENST00000315212.3:c.518G>C | ENSP00000313350.3:p.Gly173Ala | |
| ENST00000436842.5:c.*624G>C | ENSP00000404926.1:n.*624G>C | |
| NM_001286834.1:c.440G>C | NP_001273763.1:p.Gly147Ala | |
| NM_001286837.1:c.167G>C | NP_001273766.1:p.Gly56Ala | |
| NM_002936.4:c.518G>C | NP_002927.2:p.Gly173Ala | |
| XR_244873.1:n.625G>C | ||
| XR_922665.1:n.625G>C | ||
| XR_922666.1:n.625G>C | ||
| XR_922667.1:n.625G>C | ||
| XR_922668.1:n.625G>C | ||
| XR_922669.1:n.625G>C | ||
| XR_922670.1:n.625G>C | ||
| XR_922671.1:n.625G>C | ||
| XR_922672.1:n.625G>C | ||
| XR_922673.1:n.625G>C | ||
| XR_922674.1:n.625G>C | ||
| NM_001286834.2:c.440G>C | NP_001273763.1:p.Gly147Ala | |
| NM_001286837.2:c.167G>C | NP_001273766.1:p.Gly56Ala | |
| NM_002936.5:c.518G>C | NP_002927.2:p.Gly173Ala | |
| NR_148532.1:n.629G>C | ||
| NR_148533.1:n.629G>C | ||
| NR_148534.1:n.629G>C | ||
| NM_001286837.3:c.167G>C | NP_001273766.1:p.Gly56Ala | |
| NR_148532.2:n.591G>C | ||
| NR_148533.2:n.591G>C | ||
| NR_148534.2:n.591G>C | ||
| NM_001286834.3:c.440G>C | NP_001273763.1:p.Gly147Ala | |
| NM_001378271.1:c.518G>C | NP_001365200.1:p.Gly173Ala | |
| NM_001378272.1:c.515G>C | NP_001365201.1:p.Gly172Ala | |
| NM_001378273.1:c.510-7G>C | NP_001365202.1:n.510-7G>C | |
| NM_002936.6:c.518G>C MANE Select | NP_002927.2:p.Gly173Ala | |
| NR_165465.1:n.475G>C | ||
| NR_165466.1:n.583-23G>C | ||
| NR_165467.1:n.760G>C | ||
| NR_165468.1:n.563G>C |