Linked Data
dbSNP Id:
rs970282724
gnomAD v3:
3-49683967-A-G
gnomAD v4:
3-49683967-A-G
MyVariant Identifiers:
chr3:g.49683967A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49683967A>G , CM000665.2:g.49683967A>G | GRCh38 |
| NC_000003.11:g.49721400A>G , CM000665.1:g.49721400A>G | GRCh37 |
| NC_000003.10:g.49696404A>G | NCBI36 |
| NG_011438.1:g.14966A>G | |
| NG_016454.1:g.9797T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449682.3:c.*61T>C (MST1) MANE Select | ENSP00000414287.2:n.*61T>C | |
| ENST00000296456.10:c.*625A>G (APEH) MANE Select | ENSP00000296456.5:n.*625A>G | |
| ENST00000448220.5:c.647T>C (MST1) | ||
| ENST00000449682.2:c.*61T>C (MST1) | ENSP00000414287.2:n.*61T>C | |
| NM_020998.3:c.*61T>C (MST1) | NP_066278.3:n.*61T>C | |
| XM_006713166.1:c.*61T>C (MST1) | XP_006713229.1:n.*61T>C | |
| XM_011533730.1:c.*61T>C (MST1) | XP_011532032.1:n.*61T>C | |
| XM_011533731.1:c.*61T>C (MST1) | XP_011532033.1:n.*61T>C | |
| XM_011533732.1:c.*61T>C (MST1) | XP_011532034.1:n.*61T>C | |
| XM_011533733.1:c.*159T>C (MST1) | XP_011532035.1:n.*159T>C | |
| XR_427270.2:n.3171T>C (MST1) | ||
| XR_427271.1:n.3122T>C (MST1) | ||
| XR_427273.1:n.3027T>C (MST1) | ||
| XR_427274.2:n.3072T>C (MST1) | ||
| XR_940425.1:n.3167T>C (MST1) | ||
| XR_940426.1:n.3207T>C (MST1) | ||
| XR_940427.1:n.3072T>C (MST1) | ||
| NR_146060.1:n.2192T>C (MST1) | ||
| XM_006713166.2:c.*61T>C (MST1) | XP_006713229.1:n.*61T>C | |
| XM_011533732.2:c.*61T>C (MST1) | XP_011532034.1:n.*61T>C | |
| XM_017006460.2:c.*61T>C (MST1) | XP_016861949.1:n.*61T>C | |
| XM_017006461.2:c.*61T>C (MST1) | XP_016861950.1:n.*61T>C | |
| XM_017006462.2:c.*159T>C (MST1) | XP_016861951.1:n.*159T>C | |
| XM_017006463.2:c.*159T>C (MST1) | XP_016861952.1:n.*159T>C | |
| XM_017006464.2:c.*159T>C (MST1) | XP_016861953.1:n.*159T>C | |
| XR_001740149.2:n.2339T>C (MST1) | ||
| XR_001740150.2:n.2336T>C (MST1) | ||
| XR_001740151.2:n.2379T>C (MST1) | ||
| XR_001740152.2:n.2294T>C (MST1) | ||
| XR_001740153.2:n.2340T>C (MST1) | ||
| XR_002959536.1:n.2294T>C (MST1) | ||
| XR_427273.2:n.2298T>C (MST1) | ||
| XR_940427.2:n.2343T>C (MST1) | ||
| NM_001640.4:c.*625A>G (APEH) MANE Select | NP_001631.3:n.*625A>G | |
| NM_001393581.1:c.*61T>C (MST1) | NP_001380510.1:n.*61T>C | |
| NM_001393582.1:c.*61T>C (MST1) | NP_001380511.1:n.*61T>C | |
| NM_001393583.1:c.*61T>C (MST1) | NP_001380512.1:n.*61T>C | |
| NM_001393584.1:c.*61T>C (MST1) | NP_001380513.1:n.*61T>C | |
| NM_001393585.1:c.*61T>C (MST1) | NP_001380514.1:n.*61T>C | |
| NM_020998.4:c.*61T>C (MST1) MANE Select | NP_066278.3:n.*61T>C | |
| NR_146060.2:n.2903T>C (MST1) |