Linked Data
ClinVar Variation Id:
194667
dbSNP Id:
rs72650720
ExAC:
12:992649 G / A
gnomAD v2:
12-992649-G-A
gnomAD v3:
12-883483-G-A
gnomAD v4:
12-883483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.883483G>A , CM000674.2:g.883483G>A | GRCh38 |
| NC_000012.11:g.992649G>A , CM000674.1:g.992649G>A | GRCh37 |
| NC_000012.10:g.862910G>A | NCBI36 |
| NG_007984.2:g.135425G>A | |
| NG_007984.3:g.135425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.3578G>A MANE Select | ENSP00000313059.6:p.Ser1193Asn | |
| ENST00000340908.9:c.4334G>A MANE Plus Clinical | ENSP00000341292.5:p.Ser1445Asn | |
| ENST00000674810.1:n.4175G>A | ||
| ENST00000675236.1:n.2473G>A | ||
| ENST00000675631.1:c.2357G>A | ENSP00000502415.1:p.Ser786Asn | |
| ENST00000676347.1:c.1025G>A | ENSP00000501875.1:p.Ser342Asn | |
| ENST00000315939.10:c.3578G>A | ENSP00000313059.6:p.Ser1193Asn | |
| ENST00000340908.8:c.4334G>A | ENSP00000341292.5:p.Ser1445Asn | |
| ENST00000530271.6:c.4817G>A | ENSP00000433548.3:p.Ser1606Asn | |
| ENST00000534872.1:c.278G>A | ENSP00000446253.1:p.Ser93Asn | |
| ENST00000535572.5:c.2837G>A | ENSP00000441972.1:p.Ser946Asn | |
| ENST00000537687.5:c.4358G>A | ENSP00000444465.1:p.Ser1453Asn | |
| NM_001184985.1:c.4358G>A | NP_001171914.1:p.Ser1453Asn | |
| NM_014823.2:c.2837G>A | NP_055638.2:p.Ser946Asn | |
| NM_018979.3:c.3578G>A | NP_061852.3:p.Ser1193Asn | |
| NM_213655.4:c.4334G>A | NP_998820.3:p.Ser1445Asn | |
| XM_006719003.1:c.3575G>A | XP_006719066.1:p.Ser1192Asn | |
| XM_011520997.1:c.4817G>A | XP_011519299.1:p.Ser1606Asn | |
| XM_011520998.1:c.4814G>A | XP_011519300.1:p.Ser1605Asn | |
| XM_011520999.1:c.4817G>A | XP_011519301.1:p.Ser1606Asn | |
| XM_011521000.1:c.4817G>A | XP_011519302.1:p.Ser1606Asn | |
| XM_011521001.1:c.4538G>A | XP_011519303.1:p.Ser1513Asn | |
| XM_011521002.1:c.4355G>A | XP_011519304.1:p.Ser1452Asn | |
| XM_011521003.1:c.4079G>A | XP_011519305.1:p.Ser1360Asn | |
| XM_011521004.1:c.4076G>A | XP_011519306.1:p.Ser1359Asn | |
| XM_011521005.1:c.3596G>A | XP_011519307.1:p.Ser1199Asn | |
| XM_011521006.1:c.3494G>A | XP_011519308.1:p.Ser1165Asn | |
| XM_011521007.1:c.3491G>A | XP_011519309.1:p.Ser1164Asn | |
| XM_011521008.1:c.2756G>A | XP_011519310.1:p.Ser919Asn | |
| XM_011521009.1:c.2753G>A | XP_011519311.1:p.Ser918Asn | |
| XM_006719003.2:c.3575G>A | XP_006719066.1:p.Ser1192Asn | |
| XM_011520997.3:c.4817G>A | XP_011519299.1:p.Ser1606Asn | |
| XM_011520998.2:c.4814G>A | XP_011519300.1:p.Ser1605Asn | |
| XM_011520999.2:c.4817G>A | XP_011519301.1:p.Ser1606Asn | |
| XM_011521000.2:c.4817G>A | XP_011519302.1:p.Ser1606Asn | |
| XM_011521001.2:c.4538G>A | XP_011519303.1:p.Ser1513Asn | |
| XM_011521002.2:c.4355G>A | XP_011519304.1:p.Ser1452Asn | |
| XM_011521003.2:c.4079G>A | XP_011519305.1:p.Ser1360Asn | |
| XM_011521004.2:c.4076G>A | XP_011519306.1:p.Ser1359Asn | |
| XM_011521005.2:c.3596G>A | XP_011519307.1:p.Ser1199Asn | |
| XM_011521006.2:c.3494G>A | XP_011519308.1:p.Ser1165Asn | |
| XM_011521007.2:c.3491G>A | XP_011519309.1:p.Ser1164Asn | |
| XM_011521008.2:c.2756G>A | XP_011519310.1:p.Ser919Asn | |
| XM_011521009.2:c.2753G>A | XP_011519311.1:p.Ser918Asn | |
| XM_017019834.1:c.3116G>A | XP_016875323.1:p.Ser1039Asn | |
| XM_017019835.1:c.3035G>A | XP_016875324.1:p.Ser1012Asn | |
| XM_017019836.1:c.3032G>A | XP_016875325.1:p.Ser1011Asn | |
| XM_017019837.1:c.2840G>A | XP_016875326.1:p.Ser947Asn | |
| XM_017019838.1:c.2837G>A | XP_016875327.1:p.Ser946Asn | |
| XM_017019839.1:c.2756G>A | XP_016875328.1:p.Ser919Asn | |
| NM_018979.4:c.3578G>A MANE Select | NP_061852.3:p.Ser1193Asn | |
| NM_014823.3:c.2837G>A | NP_055638.2:p.Ser946Asn | |
| NM_001184985.2:c.4358G>A | NP_001171914.1:p.Ser1453Asn | |
| NM_213655.5:c.4334G>A MANE Plus Clinical | NP_998820.3:p.Ser1445Asn |