Linked Data
dbSNP Id:
rs12724079
gnomAD v2:
1-155433942-T-C
gnomAD v3:
1-155464151-T-C
gnomAD v4:
1-155464151-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155464151T>C , CM000663.2:g.155464151T>C | GRCh38 |
| NC_000001.10:g.155433942T>C , CM000663.1:g.155433942T>C | GRCh37 |
| NC_000001.9:g.153700566T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392403.8:c.4985-4253A>G MANE Select | ENSP00000376204.3:n.4985-4253A>G | |
| ENST00000548830.2:c.*4583-4253A>G | ENSP00000449283.1:n.*4583-4253A>G | |
| ENST00000676814.1:c.4985-1552A>G | ENSP00000504300.1:n.4985-1552A>G | |
| ENST00000677042.1:c.4985-4253A>G | ENSP00000503440.1:n.4985-4253A>G | |
| ENST00000677213.1:c.4985-4253A>G | ENSP00000503315.1:n.4985-4253A>G | |
| ENST00000677825.1:c.4985-4253A>G | ENSP00000503792.1:n.4985-4253A>G | |
| ENST00000678117.1:c.4985-4253A>G | ENSP00000504629.1:n.4985-4253A>G | |
| ENST00000678699.1:c.4985-4253A>G | ENSP00000503202.1:n.4985-4253A>G | |
| ENST00000679097.1:c.4985-4253A>G | ENSP00000503265.1:n.4985-4253A>G | |
| ENST00000679133.1:c.4985-4253A>G | ENSP00000504026.1:n.4985-4253A>G | |
| ENST00000679333.1:c.4985-4253A>G | ENSP00000504598.1:n.4985-4253A>G | |
| ENST00000368346.7:c.4985-4253A>G | ENSP00000357330.3:n.4985-4253A>G | |
| ENST00000392403.7:c.4985-4253A>G | ENSP00000376204.3:n.4985-4253A>G | |
| NM_018489.2:c.4985-4253A>G | NP_060959.2:n.4985-4253A>G | |
| XM_005245337.3:c.4985-4253A>G | XP_005245394.1:n.4985-4253A>G | |
| XM_006711450.2:c.4985-4253A>G | XP_006711513.1:n.4985-4253A>G | |
| XM_006711451.2:c.4985-4253A>G | XP_006711514.1:n.4985-4253A>G | |
| XM_006711452.2:c.4985-4253A>G | XP_006711515.1:n.4985-4253A>G | |
| XM_011509769.1:c.4985-4253A>G | XP_011508071.1:n.4985-4253A>G | |
| NM_001366177.1:c.4985-4253A>G | NP_001353106.1:n.4985-4253A>G | |
| XM_005245337.5:c.4985-4253A>G | XP_005245394.1:n.4985-4253A>G | |
| XM_006711450.3:c.4985-4253A>G | XP_006711513.1:n.4985-4253A>G | |
| XM_006711451.3:c.4985-4253A>G | XP_006711514.1:n.4985-4253A>G | |
| XM_006711452.4:c.4985-4253A>G | XP_006711515.1:n.4985-4253A>G | |
| XM_011509769.3:c.4985-4253A>G | XP_011508071.1:n.4985-4253A>G | |
| XM_011509770.3:c.-267-4253A>G | XP_011508072.1:n.-267-4253A>G | |
| XM_017001784.1:c.4985-4253A>G | XP_016857273.1:n.4985-4253A>G | |
| XM_017001785.1:c.4985-4253A>G | XP_016857274.1:n.4985-4253A>G | |
| XM_017001786.2:c.4985-4253A>G | XP_016857275.1:n.4985-4253A>G | |
| XM_017001787.2:c.4985-4253A>G | XP_016857276.1:n.4985-4253A>G | |
| NM_018489.3:c.4985-4253A>G MANE Select | NP_060959.2:n.4985-4253A>G | |
| NM_001366177.2:c.4985-4253A>G | NP_001353106.1:n.4985-4253A>G |