Linked Data
dbSNP Id:
rs756411440
ExAC:
3:48605177 C / G
gnomAD v2:
3-48605177-C-G
gnomAD v4:
3-48567744-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567744C>G , CM000665.2:g.48567744C>G | GRCh38 |
| NC_000003.11:g.48605177C>G , CM000665.1:g.48605177C>G | GRCh37 |
| NC_000003.10:g.48580181C>G | NCBI36 |
| NG_007065.1:g.32509G>C , LRG_286:g.32509G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7949G>C MANE Select | ENSP00000506558.1:p.Gly2650Ala | |
| ENST00000328333.12:c.7949G>C | ENSP00000332371.8:p.Gly2650Ala | |
| ENST00000459756.5:n.772G>C | ||
| ENST00000487017.5:n.4588G>C | ||
| NM_000094.3:c.7949G>C , LRG_286t1:c.7949G>C | NP_000085.1:p.Gly2650Ala | |
| XM_011533336.1:c.7976G>C | XP_011531638.1:p.Gly2659Ala | |
| XM_011533337.1:c.7949G>C | XP_011531639.1:p.Gly2650Ala | |
| XM_011533338.1:c.7916G>C | XP_011531640.1:p.Gly2639Ala | |
| XR_940369.1:n.8012G>C | ||
| XR_940370.1:n.8012G>C | ||
| XR_940371.1:n.8012G>C | ||
| XM_017005688.1:c.7889G>C | XP_016861177.1:p.Gly2630Ala | |
| XR_001740003.1:n.7985G>C | ||
| XR_001740004.1:n.7985G>C | ||
| XR_001740005.1:n.7985G>C | ||
| NM_000094.4:c.7949G>C MANE Select | NP_000085.1:p.Gly2650Ala |