Linked Data
ClinVar Variation Id:
383946
ClinVar RCV Id:
RCV000442330
dbSNP Id:
rs1057521795
gnomAD v2:
22-40762485-T-C
gnomAD v3:
22-40366481-T-C
gnomAD v4:
22-40366481-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40366481T>C , CM000684.2:g.40366481T>C | GRCh38 |
| NC_000022.10:g.40762485T>C , CM000684.1:g.40762485T>C | GRCh37 |
| NC_000022.9:g.39092431T>C | NCBI36 |
| NG_007993.1:g.24982T>C | |
| NG_007993.2:g.24982T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480775.3:c.*808T>C | ENSP00000485462.2:n.*808T>C | |
| ENST00000623287.4:c.*839T>C | ENSP00000485437.1:n.*839T>C | |
| ENST00000623632.4:c.1105T>C | ENSP00000485288.2:p.Tyr369His | |
| ENST00000625194.4:c.1456T>C | ENSP00000485289.2:p.Tyr486His | |
| ENST00000636433.1:n.1436T>C | ||
| ENST00000636714.1:c.1414T>C | ENSP00000490946.1:p.Tyr472His | |
| ENST00000637666.2:c.1237T>C | ENSP00000489696.2:p.Tyr413His | |
| ENST00000637669.1:c.1414T>C | ENSP00000489728.1:p.Tyr472His | |
| ENST00000639722.1:c.*1110T>C | ENSP00000492828.1:n.*1110T>C | |
| ENST00000674592.1:n.2928T>C | ||
| ENST00000675622.1:n.4481T>C | ||
| ENST00000679609.1:c.*1024T>C | ENSP00000506592.1:n.*1024T>C | |
| ENST00000679656.1:n.2099T>C | ||
| ENST00000679723.1:c.1369T>C | ENSP00000505155.1:p.Tyr457His | |
| ENST00000679845.1:n.1722T>C | ||
| ENST00000679904.1:n.1810T>C | ||
| ENST00000680378.1:c.1501T>C | ENSP00000505556.1:p.Tyr501His | |
| ENST00000680444.1:c.*777T>C | ENSP00000505298.1:n.*777T>C | |
| ENST00000680978.1:c.1414T>C | ENSP00000505244.1:p.Tyr472His | |
| ENST00000681003.1:n.877T>C | ||
| ENST00000681159.1:n.2818T>C | ||
| ENST00000216194.11:c.1456T>C | ENSP00000216194.8:p.Tyr486His | |
| ENST00000342312.9:c.1237T>C | ENSP00000341429.6:p.Tyr413His | |
| ENST00000423176.6:c.141T>C | ||
| ENST00000498234.2:c.72T>C | ||
| ENST00000623063.3:c.1414T>C MANE Select | ENSP00000485525.1:p.Tyr472His | |
| ENST00000623387.1:n.545T>C | ||
| ENST00000623869.3:c.145T>C | ENSP00000485211.1:p.Tyr49His | |
| ENST00000624027.1:c.96-988T>C | ||
| ENST00000625194.3:c.1043T>C | ||
| NM_000026.2:c.1414T>C | NP_000017.1:p.Tyr472His | |
| NM_001123378.1:c.1237T>C | NP_001116850.1:p.Tyr413His | |
| XM_011529976.1:c.1414T>C | XP_011528278.1:p.Tyr472His | |
| XM_011529977.1:c.1414T>C | XP_011528279.1:p.Tyr472His | |
| XM_011529978.1:c.1237T>C | XP_011528280.1:p.Tyr413His | |
| XM_011529979.1:c.1414T>C | XP_011528281.1:p.Tyr472His | |
| XM_011529980.1:c.1237T>C | XP_011528282.1:p.Tyr413His | |
| XM_011529981.1:c.949T>C | XP_011528283.1:p.Tyr317His | |
| XM_011529982.1:c.583T>C | XP_011528284.1:p.Tyr195His | |
| XR_937824.1:n.1504T>C | ||
| XR_937825.1:n.1327T>C | ||
| NM_000026.3:c.1414T>C | NP_000017.1:p.Tyr472His | |
| NM_001123378.2:c.1237T>C | NP_001116850.1:p.Tyr413His | |
| NM_001317923.1:c.1222T>C | NP_001304852.1:p.Tyr408His | |
| NM_001363840.1:c.1414T>C | NP_001350769.1:p.Tyr472His | |
| NR_134256.1:n.1504T>C | ||
| XM_011529977.3:c.1414T>C | XP_011528279.1:p.Tyr472His | |
| XM_011529980.3:c.1237T>C | XP_011528282.1:p.Tyr413His | |
| XM_017028636.1:c.1369T>C | XP_016884125.1:p.Tyr457His | |
| XM_017028637.1:c.1369T>C | XP_016884126.1:p.Tyr457His | |
| XM_017028638.1:c.949T>C | XP_016884127.1:p.Tyr317His | |
| XM_017028639.2:c.949T>C | XP_016884128.1:p.Tyr317His | |
| XM_017028640.1:c.583T>C | XP_016884129.1:p.Tyr195His | |
| XM_024452166.1:c.1192T>C | XP_024307934.1:p.Tyr398His | |
| XR_001755176.2:n.1656T>C | ||
| XR_002958670.1:n.1441T>C | ||
| XR_937825.3:n.1325T>C | ||
| NM_000026.4:c.1414T>C MANE Select | NP_000017.1:p.Tyr472His | |
| NM_001363840.2:c.1414T>C | NP_001350769.1:p.Tyr472His | |
| NM_001123378.3:c.1237T>C | NP_001116850.1:p.Tyr413His | |
| NM_001317923.2:c.1222T>C | NP_001304852.1:p.Tyr408His | |
| NM_001363840.3:c.1414T>C | NP_001350769.1:p.Tyr472His | |
| NR_134256.2:n.1504T>C |