Linked Data
ClinVar Variation Id:
283531
dbSNP Id:
rs751928831
ExAC:
22:40754964 G / C
gnomAD v2:
22-40754964-G-C
gnomAD v3:
22-40358960-G-C
gnomAD v4:
22-40358960-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40358960G>C , CM000684.2:g.40358960G>C | GRCh38 |
| NC_000022.10:g.40754964G>C , CM000684.1:g.40754964G>C | GRCh37 |
| NC_000022.9:g.39084910G>C | NCBI36 |
| NG_007993.1:g.17461G>C | |
| NG_007993.2:g.17461G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.579G>C | ENSP00000485462.2:p.Leu193= | |
| ENST00000623287.4:c.*4G>C | ENSP00000485437.1:n.*4G>C | |
| ENST00000623632.4:c.579G>C | ENSP00000485288.2:p.Leu193= | |
| ENST00000625194.4:c.579G>C | ENSP00000485289.2:p.Leu193= | |
| ENST00000636124.1:n.271G>C | ||
| ENST00000636265.1:c.579G>C | ENSP00000490909.1:p.Leu193= | |
| ENST00000636433.1:n.601G>C | ||
| ENST00000636714.1:c.579G>C | ENSP00000490946.1:p.Leu193= | |
| ENST00000637666.2:c.579G>C | ENSP00000489696.2:p.Leu193= | |
| ENST00000637669.1:c.579G>C | ENSP00000489728.1:p.Leu193= | |
| ENST00000639722.1:c.*275G>C | ENSP00000492828.1:n.*275G>C | |
| ENST00000674592.1:n.603G>C | ||
| ENST00000675622.1:n.3646G>C | ||
| ENST00000679609.1:c.*4G>C | ENSP00000506592.1:n.*4G>C | |
| ENST00000679656.1:n.484G>C | ||
| ENST00000679723.1:c.534G>C | ENSP00000505155.1:p.Leu178= | |
| ENST00000679845.1:n.702G>C | ||
| ENST00000679904.1:n.566G>C | ||
| ENST00000680378.1:c.666G>C | ENSP00000505556.1:p.Leu222= | |
| ENST00000680444.1:c.579G>C | ENSP00000505298.1:p.Leu193= | |
| ENST00000680978.1:c.579G>C | ENSP00000505244.1:p.Leu193= | |
| ENST00000681159.1:n.638G>C | ||
| ENST00000216194.11:c.621G>C | ENSP00000216194.8:p.Leu207= | |
| ENST00000342312.9:c.579G>C | ENSP00000341429.6:p.Leu193= | |
| ENST00000477111.2:n.484G>C | ||
| ENST00000623063.3:c.579G>C MANE Select | ENSP00000485525.1:p.Leu193= | |
| ENST00000623287.3:c.*4G>C | ENSP00000485437.1:n.*4G>C | |
| ENST00000623632.3:c.534G>C | ENSP00000485288.1:p.Leu178= | |
| ENST00000623978.3:c.39G>C | ENSP00000485477.1:p.Leu13= | |
| ENST00000624474.1:c.*4G>C | ENSP00000485286.1:n.*4G>C | |
| ENST00000625194.3:c.166G>C | ||
| NM_000026.2:c.579G>C | NP_000017.1:p.Leu193= | |
| NM_001123378.1:c.579G>C | NP_001116850.1:p.Leu193= | |
| XM_011529976.1:c.579G>C | XP_011528278.1:p.Leu193= | |
| XM_011529977.1:c.579G>C | XP_011528279.1:p.Leu193= | |
| XM_011529978.1:c.579G>C | XP_011528280.1:p.Leu193= | |
| XM_011529979.1:c.579G>C | XP_011528281.1:p.Leu193= | |
| XM_011529980.1:c.579G>C | XP_011528282.1:p.Leu193= | |
| XM_011529981.1:c.114G>C | XP_011528283.1:p.Leu38= | |
| XR_937824.1:n.638G>C | ||
| XR_937825.1:n.638G>C | ||
| XR_937826.1:n.638G>C | ||
| NM_000026.3:c.579G>C | NP_000017.1:p.Leu193= | |
| NM_001123378.2:c.579G>C | NP_001116850.1:p.Leu193= | |
| NM_001317923.1:c.387G>C | NP_001304852.1:p.Leu129= | |
| NM_001363840.1:c.579G>C | NP_001350769.1:p.Leu193= | |
| NR_134256.1:n.638G>C | ||
| XM_011529977.3:c.579G>C | XP_011528279.1:p.Leu193= | |
| XM_011529980.3:c.579G>C | XP_011528282.1:p.Leu193= | |
| XM_017028636.1:c.534G>C | XP_016884125.1:p.Leu178= | |
| XM_017028637.1:c.534G>C | XP_016884126.1:p.Leu178= | |
| XM_017028638.1:c.114G>C | XP_016884127.1:p.Leu38= | |
| XM_017028639.2:c.114G>C | XP_016884128.1:p.Leu38= | |
| XM_024452166.1:c.534G>C | XP_024307934.1:p.Leu178= | |
| XR_001755176.2:n.636G>C | ||
| XR_002958670.1:n.575G>C | ||
| XR_002958671.1:n.636G>C | ||
| XR_937825.3:n.636G>C | ||
| NM_000026.4:c.579G>C MANE Select | NP_000017.1:p.Leu193= | |
| NM_001363840.2:c.579G>C | NP_001350769.1:p.Leu193= | |
| NM_001123378.3:c.579G>C | NP_001116850.1:p.Leu193= | |
| NM_001317923.2:c.387G>C | NP_001304852.1:p.Leu129= | |
| NM_001363840.3:c.579G>C | NP_001350769.1:p.Leu193= | |
| NR_134256.2:n.638G>C |