Linked Data
ClinVar Variation Id:
195979
dbSNP Id:
rs72650768
ExAC:
12:1009817 C / A
gnomAD v2:
12-1009817-C-A
gnomAD v3:
12-900651-C-A
gnomAD v4:
12-900651-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.900651C>A , CM000674.2:g.900651C>A | GRCh38 |
| NC_000012.11:g.1009817C>A , CM000674.1:g.1009817C>A | GRCh37 |
| NC_000012.10:g.880078C>A | NCBI36 |
| NG_007984.2:g.152593C>A | |
| NG_007984.3:g.152593C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.6624C>A MANE Select | ENSP00000313059.6:p.Ser2208Arg | |
| ENST00000340908.9:c.7380C>A MANE Plus Clinical | ENSP00000341292.5:p.Ser2460Arg | |
| ENST00000675631.1:c.5403C>A | ENSP00000502415.1:p.Ser1801Arg | |
| ENST00000676347.1:c.4071C>A | ENSP00000501875.1:p.Ser1357Arg | |
| ENST00000315939.10:c.6624C>A | ENSP00000313059.6:p.Ser2208Arg | |
| ENST00000340908.8:c.7380C>A | ENSP00000341292.5:p.Ser2460Arg | |
| ENST00000530271.6:c.7863C>A | ENSP00000433548.3:p.Ser2621Arg | |
| ENST00000535572.5:c.5880C>A | ENSP00000441972.1:p.Ser1960Arg | |
| ENST00000537603.1:n.179C>A | ||
| ENST00000537687.5:c.7404C>A | ENSP00000444465.1:p.Ser2468Arg | |
| ENST00000542424.1:n.489C>A | ||
| ENST00000543065.1:c.54C>A | ENSP00000438985.1:p.Ser18Arg | |
| ENST00000544559.1:c.55C>A | ||
| NM_001184985.1:c.7404C>A | NP_001171914.1:p.Ser2468Arg | |
| NM_014823.2:c.5880C>A | NP_055638.2:p.Ser1960Arg | |
| NM_018979.3:c.6624C>A | NP_061852.3:p.Ser2208Arg | |
| NM_213655.4:c.7380C>A | NP_998820.3:p.Ser2460Arg | |
| XM_006719003.1:c.6621C>A | XP_006719066.1:p.Ser2207Arg | |
| XM_011520997.1:c.7863C>A | XP_011519299.1:p.Ser2621Arg | |
| XM_011520998.1:c.7860C>A | XP_011519300.1:p.Ser2620Arg | |
| XM_011520999.1:c.7860C>A | XP_011519301.1:p.Ser2620Arg | |
| XM_011521000.1:c.7687+2970C>A | XP_011519302.1:n.7687+2970C>A | |
| XM_011521001.1:c.7584C>A | XP_011519303.1:p.Ser2528Arg | |
| XM_011521002.1:c.7401C>A | XP_011519304.1:p.Ser2467Arg | |
| XM_011521003.1:c.7125C>A | XP_011519305.1:p.Ser2375Arg | |
| XM_011521004.1:c.7122C>A | XP_011519306.1:p.Ser2374Arg | |
| XM_011521005.1:c.6642C>A | XP_011519307.1:p.Ser2214Arg | |
| XM_011521006.1:c.6540C>A | XP_011519308.1:p.Ser2180Arg | |
| XM_011521007.1:c.6537C>A | XP_011519309.1:p.Ser2179Arg | |
| XM_011521008.1:c.5802C>A | XP_011519310.1:p.Ser1934Arg | |
| XM_011521009.1:c.5799C>A | XP_011519311.1:p.Ser1933Arg | |
| XM_006719003.2:c.6621C>A | XP_006719066.1:p.Ser2207Arg | |
| XM_011520997.3:c.7863C>A | XP_011519299.1:p.Ser2621Arg | |
| XM_011520998.2:c.7860C>A | XP_011519300.1:p.Ser2620Arg | |
| XM_011520999.2:c.7860C>A | XP_011519301.1:p.Ser2620Arg | |
| XM_011521000.2:c.7687+2970C>A | XP_011519302.1:n.7687+2970C>A | |
| XM_011521001.2:c.7584C>A | XP_011519303.1:p.Ser2528Arg | |
| XM_011521002.2:c.7401C>A | XP_011519304.1:p.Ser2467Arg | |
| XM_011521003.2:c.7125C>A | XP_011519305.1:p.Ser2375Arg | |
| XM_011521004.2:c.7122C>A | XP_011519306.1:p.Ser2374Arg | |
| XM_011521005.2:c.6642C>A | XP_011519307.1:p.Ser2214Arg | |
| XM_011521006.2:c.6540C>A | XP_011519308.1:p.Ser2180Arg | |
| XM_011521007.2:c.6537C>A | XP_011519309.1:p.Ser2179Arg | |
| XM_011521008.2:c.5802C>A | XP_011519310.1:p.Ser1934Arg | |
| XM_011521009.2:c.5799C>A | XP_011519311.1:p.Ser1933Arg | |
| XM_017019834.1:c.6162C>A | XP_016875323.1:p.Ser2054Arg | |
| XM_017019835.1:c.6081C>A | XP_016875324.1:p.Ser2027Arg | |
| XM_017019836.1:c.6078C>A | XP_016875325.1:p.Ser2026Arg | |
| XM_017019837.1:c.5886C>A | XP_016875326.1:p.Ser1962Arg | |
| XM_017019838.1:c.5883C>A | XP_016875327.1:p.Ser1961Arg | |
| XM_017019839.1:c.5626+2970C>A | XP_016875328.1:n.5626+2970C>A | |
| NM_018979.4:c.6624C>A MANE Select | NP_061852.3:p.Ser2208Arg | |
| NM_014823.3:c.5880C>A | NP_055638.2:p.Ser1960Arg | |
| NM_001184985.2:c.7404C>A | NP_001171914.1:p.Ser2468Arg | |
| NM_213655.5:c.7380C>A MANE Plus Clinical | NP_998820.3:p.Ser2460Arg |