Linked Data
ClinVar Variation Id:
2725588
ClinVar RCV Id:
RCV003499624
dbSNP Id:
rs2044946255
gnomAD v3:
22-40365003-C-T
gnomAD v4:
22-40365003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40365003C>T , CM000684.2:g.40365003C>T | GRCh38 |
| NC_000022.10:g.40761007C>T , CM000684.1:g.40761007C>T | GRCh37 |
| NC_000022.9:g.39090953C>T | NCBI36 |
| NG_007993.1:g.23504C>T | |
| NG_007993.2:g.23504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*709C>T | ENSP00000485462.2:n.*709C>T | |
| ENST00000623287.4:c.*740C>T | ENSP00000485437.1:n.*740C>T | |
| ENST00000623632.4:c.1006C>T | ENSP00000485288.2:p.Gln336Ter | |
| ENST00000625194.4:c.1357C>T | ENSP00000485289.2:p.Gln453Ter | |
| ENST00000636433.1:n.1337C>T | ||
| ENST00000636714.1:c.1315C>T | ENSP00000490946.1:p.Gln439Ter | |
| ENST00000637666.2:c.1191+638C>T | ENSP00000489696.2:n.1191+638C>T | |
| ENST00000637669.1:c.1315C>T | ENSP00000489728.1:p.Gln439Ter | |
| ENST00000639722.1:c.*1011C>T | ENSP00000492828.1:n.*1011C>T | |
| ENST00000674592.1:n.2829C>T | ||
| ENST00000675622.1:n.4382C>T | ||
| ENST00000679609.1:c.*925C>T | ENSP00000506592.1:n.*925C>T | |
| ENST00000679656.1:n.2000C>T | ||
| ENST00000679723.1:c.1270C>T | ENSP00000505155.1:p.Gln424Ter | |
| ENST00000679845.1:n.1623C>T | ||
| ENST00000679904.1:n.1711C>T | ||
| ENST00000680378.1:c.1402C>T | ENSP00000505556.1:p.Gln468Ter | |
| ENST00000680444.1:c.*678C>T | ENSP00000505298.1:n.*678C>T | |
| ENST00000680978.1:c.1315C>T | ENSP00000505244.1:p.Gln439Ter | |
| ENST00000681003.1:n.778C>T | ||
| ENST00000681159.1:n.2719C>T | ||
| ENST00000216194.11:c.1357C>T | ENSP00000216194.8:p.Gln453Ter | |
| ENST00000342312.9:c.1191+638C>T | ENSP00000341429.6:n.1191+638C>T | |
| ENST00000423176.6:c.42C>T | ||
| ENST00000623063.3:c.1315C>T MANE Select | ENSP00000485525.1:p.Gln439Ter | |
| ENST00000623387.1:n.446C>T | ||
| ENST00000623869.3:c.46C>T | ENSP00000485211.1:p.Gln16Ter | |
| ENST00000624027.1:c.42C>T | ||
| ENST00000625194.3:c.944C>T | ||
| NM_000026.2:c.1315C>T | NP_000017.1:p.Gln439Ter | |
| NM_001123378.1:c.1191+638C>T | NP_001116850.1:n.1191+638C>T | |
| XM_011529976.1:c.1315C>T | XP_011528278.1:p.Gln439Ter | |
| XM_011529977.1:c.1315C>T | XP_011528279.1:p.Gln439Ter | |
| XM_011529978.1:c.1191+638C>T | XP_011528280.1:n.1191+638C>T | |
| XM_011529979.1:c.1315C>T | XP_011528281.1:p.Gln439Ter | |
| XM_011529980.1:c.1191+638C>T | XP_011528282.1:n.1191+638C>T | |
| XM_011529981.1:c.850C>T | XP_011528283.1:p.Gln284Ter | |
| XM_011529982.1:c.484C>T | XP_011528284.1:p.Gln162Ter | |
| XR_937824.1:n.1405C>T | ||
| XR_937825.1:n.1281+638C>T | ||
| NM_000026.3:c.1315C>T | NP_000017.1:p.Gln439Ter | |
| NM_001123378.2:c.1191+638C>T | NP_001116850.1:n.1191+638C>T | |
| NM_001317923.1:c.1123C>T | NP_001304852.1:p.Gln375Ter | |
| NM_001363840.1:c.1315C>T | NP_001350769.1:p.Gln439Ter | |
| NR_134256.1:n.1405C>T | ||
| XM_011529977.3:c.1315C>T | XP_011528279.1:p.Gln439Ter | |
| XM_011529980.3:c.1191+638C>T | XP_011528282.1:n.1191+638C>T | |
| XM_017028636.1:c.1270C>T | XP_016884125.1:p.Gln424Ter | |
| XM_017028637.1:c.1270C>T | XP_016884126.1:p.Gln424Ter | |
| XM_017028638.1:c.850C>T | XP_016884127.1:p.Gln284Ter | |
| XM_017028639.2:c.850C>T | XP_016884128.1:p.Gln284Ter | |
| XM_017028640.1:c.484C>T | XP_016884129.1:p.Gln162Ter | |
| XM_024452166.1:c.1146+638C>T | XP_024307934.1:n.1146+638C>T | |
| XR_001755176.2:n.1557C>T | ||
| XR_002958670.1:n.1342C>T | ||
| XR_937825.3:n.1279+638C>T | ||
| NM_000026.4:c.1315C>T MANE Select | NP_000017.1:p.Gln439Ter | |
| NM_001363840.2:c.1315C>T | NP_001350769.1:p.Gln439Ter | |
| NM_001123378.3:c.1191+638C>T | NP_001116850.1:n.1191+638C>T | |
| NM_001317923.2:c.1123C>T | NP_001304852.1:p.Gln375Ter | |
| NM_001363840.3:c.1315C>T | NP_001350769.1:p.Gln439Ter | |
| NR_134256.2:n.1405C>T |