Linked Data
dbSNP Id:
rs1564892393
gnomAD v2:
11-17428192-G-C
gnomAD v3:
11-17406645-G-C
gnomAD v4:
11-17406645-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406645G>C , CM000673.2:g.17406645G>C | GRCh38 |
| NC_000011.9:g.17428192G>C , CM000673.1:g.17428192G>C | GRCh37 |
| NC_000011.8:g.17384768G>C | NCBI36 |
| NG_008867.1:g.75258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2875C>G | ||
| ENST00000529967.6:n.1645C>G | ||
| ENST00000532220.2:n.1038C>G | ||
| ENST00000642611.2:n.3375C>G | ||
| ENST00000645004.2:n.805C>G | ||
| ENST00000682051.1:n.3322C>G | ||
| ENST00000682110.1:n.3375C>G | ||
| ENST00000682140.1:c.3303C>G | ENSP00000507829.1:p.Asn1101Lys | |
| ENST00000682185.1:n.4611C>G | ||
| ENST00000682204.1:c.*1444C>G | ENSP00000507094.1:n.*1444C>G | |
| ENST00000682215.1:n.3372C>G | ||
| ENST00000682288.1:c.*1737C>G | ENSP00000507506.1:n.*1737C>G | |
| ENST00000682442.1:n.3595C>G | ||
| ENST00000682528.1:n.3452C>G | ||
| ENST00000682673.1:n.3319C>G | ||
| ENST00000682805.1:n.3372C>G | ||
| ENST00000682965.1:c.3303C>G | ENSP00000508229.1:p.Asn1101Lys | |
| ENST00000683093.1:n.3474C>G | ||
| ENST00000683136.1:c.3303C>G | ENSP00000507768.1:p.Asn1101Lys | |
| ENST00000683153.1:n.3531C>G | ||
| ENST00000683365.1:n.3477C>G | ||
| ENST00000683377.1:n.3375C>G | ||
| ENST00000683456.1:c.*443C>G | ENSP00000508318.1:n.*443C>G | |
| ENST00000683522.1:n.3375C>G | ||
| ENST00000683562.1:c.*1475C>G | ENSP00000508265.1:n.*1475C>G | |
| ENST00000683693.1:n.3452C>G | ||
| ENST00000683725.1:c.3306C>G | ENSP00000507496.1:p.Asn1102Lys | |
| ENST00000684010.1:n.3370C>G | ||
| ENST00000684157.1:n.3375C>G | ||
| ENST00000684253.1:n.3278C>G | ||
| ENST00000684288.1:c.*1478C>G | ENSP00000507143.1:n.*1478C>G | |
| ENST00000684313.1:n.2807C>G | ||
| ENST00000684332.1:n.3448C>G | ||
| ENST00000684371.1:n.3481C>G | ||
| ENST00000684404.1:n.3418C>G | ||
| ENST00000684442.1:n.3375C>G | ||
| ENST00000684555.1:c.*1518C>G | ENSP00000507705.1:n.*1518C>G | |
| ENST00000684571.1:c.3147C>G | ENSP00000506935.1:p.Asn1049Lys | |
| ENST00000684593.1:c.*3011C>G | ENSP00000507005.1:n.*3011C>G | |
| ENST00000684711.1:c.*1702C>G | ENSP00000506841.1:n.*1702C>G | |
| ENST00000302539.9:c.3309C>G | ENSP00000303960.4:p.Asn1103Lys | |
| ENST00000389817.8:c.3306C>G MANE Select | ENSP00000374467.4:p.Asn1102Lys | |
| ENST00000642271.1:c.3303C>G | ENSP00000493749.1:p.Asn1101Lys | |
| ENST00000642579.1:c.1390C>G | ||
| ENST00000642611.1:n.3260C>G | ||
| ENST00000642902.1:c.3088C>G | ||
| ENST00000643260.1:c.3306C>G | ENSP00000494450.1:p.Asn1102Lys | |
| ENST00000643562.1:c.*1282C>G | ENSP00000496124.1:n.*1282C>G | |
| ENST00000643925.1:c.1430C>G | ||
| ENST00000644447.1:c.1662C>G | ENSP00000496282.1:p.Asn554Lys | |
| ENST00000644484.1:c.*1561C>G | ENSP00000493558.1:n.*1561C>G | |
| ENST00000644542.1:c.*3110C>G | ENSP00000495532.1:n.*3110C>G | |
| ENST00000644675.1:c.*1478C>G | ENSP00000494567.1:n.*1478C>G | |
| ENST00000644757.1:c.*1591C>G | ENSP00000495085.1:n.*1591C>G | |
| ENST00000644772.1:c.3372C>G | ENSP00000494321.1:p.Asn1124Lys | |
| ENST00000645004.1:n.445C>G | ||
| ENST00000645076.1:c.2505C>G | ||
| ENST00000645417.1:c.472C>G | ||
| ENST00000645744.1:c.*1570C>G | ENSP00000494564.1:n.*1570C>G | |
| ENST00000645760.1:c.3581C>G | ||
| ENST00000645884.1:c.*443C>G | ENSP00000495516.1:n.*443C>G | |
| ENST00000646003.1:c.*1262C>G | ENSP00000495259.1:n.*1262C>G | |
| ENST00000646207.1:c.*1773C>G | ENSP00000495025.1:n.*1773C>G | |
| ENST00000646276.1:c.*1579C>G | ENSP00000496070.1:n.*1579C>G | |
| ENST00000646592.1:c.2612C>G | ||
| ENST00000646902.1:c.3303C>G | ENSP00000494101.1:p.Asn1101Lys | |
| ENST00000646993.1:c.*1702C>G | ENSP00000493720.1:n.*1702C>G | |
| ENST00000647013.1:c.3312C>G | ENSP00000496741.1:n.3312C>G | |
| ENST00000647015.1:c.3057C>G | ENSP00000495389.1:p.Asn1019Lys | |
| ENST00000647086.1:c.*3036C>G | ENSP00000493677.1:n.*3036C>G | |
| ENST00000647158.1:c.*1447C>G | ENSP00000495744.1:n.*1447C>G | |
| ENST00000302539.8:c.3309C>G | ENSP00000303960.4:p.Asn1103Lys | |
| ENST00000389817.7:c.3306C>G | ENSP00000374467.3:p.Asn1102Lys | |
| ENST00000524561.1:n.438C>G | ||
| ENST00000527905.5:c.*182C>G | ENSP00000431653.1:n.*182C>G | |
| NM_000352.4:c.3306C>G | NP_000343.2:p.Asn1102Lys | |
| NM_001287174.1:c.3309C>G | NP_001274103.1:p.Asn1103Lys | |
| XM_011520331.1:c.3306C>G | XP_011518633.1:p.Asn1102Lys | |
| XM_011520332.1:c.3309C>G | XP_011518634.1:p.Asn1103Lys | |
| XM_011520333.1:c.1806C>G | XP_011518635.1:p.Asn602Lys | |
| XR_930890.1:n.3372C>G | ||
| XR_930891.1:n.3372C>G | ||
| XR_930892.1:n.3272C>G | ||
| XR_930893.1:n.3269C>G | ||
| NM_001351295.1:c.3372C>G | NP_001338224.1:p.Asn1124Lys | |
| NM_001351296.1:c.3306C>G | NP_001338225.1:p.Asn1102Lys | |
| NM_001351297.1:c.3303C>G | NP_001338226.1:p.Asn1101Lys | |
| NR_147094.1:n.3455C>G | ||
| XM_017018197.2:c.3375C>G | XP_016873686.1:p.Asn1125Lys | |
| XM_017018199.1:c.3372C>G | XP_016873688.1:p.Asn1124Lys | |
| XM_017018201.2:c.3375C>G | XP_016873690.1:p.Asn1125Lys | |
| XM_017018202.1:c.1872C>G | XP_016873691.1:p.Asn624Lys | |
| XM_017018204.1:c.1263C>G | XP_016873693.1:p.Asn421Lys | |
| XM_024448668.1:c.1674C>G | XP_024304436.1:p.Asn558Lys | |
| XR_001747945.2:n.3447C>G | ||
| XR_001747946.2:n.3378C>G | ||
| XR_002957189.1:n.3527C>G | ||
| NM_000352.6:c.3306C>G MANE Select | NP_000343.2:p.Asn1102Lys | |
| NM_001287174.2:c.3309C>G | NP_001274103.1:p.Asn1103Lys | |
| NM_001351295.2:c.3372C>G | NP_001338224.1:p.Asn1124Lys | |
| NM_001351296.2:c.3306C>G | NP_001338225.1:p.Asn1102Lys | |
| NM_001351297.2:c.3303C>G | NP_001338226.1:p.Asn1101Lys | |
| NR_147094.2:n.3455C>G | ||
| NM_001287174.3:c.3309C>G | NP_001274103.1:p.Asn1103Lys |