Linked Data
ClinVar Variation Id:
196847
dbSNP Id:
rs368212208
ExAC:
8:144991318 G / C
gnomAD v2:
8-144991318-G-C
gnomAD v3:
8-143917150-G-C
gnomAD v4:
8-143917150-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143917150G>C , CM000670.2:g.143917150G>C | GRCh38 |
| NC_000008.10:g.144991318G>C , CM000670.1:g.144991318G>C | GRCh37 |
| NC_000008.9:g.145063306G>C | NCBI36 |
| NG_012492.1:g.64596C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.12803C>G | ENSP00000437303.2:p.Ala4268Gly | |
| ENST00000685198.1:c.12722C>G | ENSP00000510528.1:p.Ala4241Gly | |
| ENST00000687971.1:c.12389C>G | ENSP00000510788.1:p.Ala4130Gly | |
| ENST00000693060.1:c.12602C>G | ENSP00000510329.1:p.Ala4201Gly | |
| ENST00000345136.8:c.12671C>G MANE Select | ENSP00000344848.3:p.Ala4224Gly | |
| ENST00000527303.2:c.9371C>G | ENSP00000433982.2:p.Ala3124Gly | |
| ENST00000322810.8:c.13082C>G | ENSP00000323856.4:p.Ala4361Gly | |
| ENST00000345136.7:c.12671C>G | ENSP00000344848.3:p.Ala4224Gly | |
| ENST00000354589.7:c.12671C>G | ENSP00000346602.3:p.Ala4224Gly | |
| ENST00000354958.6:c.12605C>G | ENSP00000347044.2:p.Ala4202Gly | |
| ENST00000356346.7:c.12629C>G MANE Plus Clinical | ENSP00000348702.3:p.Ala4210Gly | |
| ENST00000357649.6:c.12683C>G | ENSP00000350277.2:p.Ala4228Gly | |
| ENST00000398774.6:c.12575C>G | ENSP00000381756.2:p.Ala4192Gly | |
| ENST00000436759.6:c.12752C>G | ENSP00000388180.2:p.Ala4251Gly | |
| ENST00000527096.5:c.12740C>G | ENSP00000434583.1:p.Ala4247Gly | |
| NM_000445.4:c.12752C>G | NP_000436.2:p.Ala4251Gly | |
| NM_201378.3:c.12629C>G | NP_958780.1:p.Ala4210Gly | |
| NM_201379.2:c.12605C>G | NP_958781.1:p.Ala4202Gly | |
| NM_201380.3:c.13082C>G | NP_958782.1:p.Ala4361Gly | |
| NM_201381.2:c.12575C>G | NP_958783.1:p.Ala4192Gly | |
| NM_201382.3:c.12671C>G | NP_958784.1:p.Ala4224Gly | |
| NM_201383.2:c.12683C>G | NP_958785.1:p.Ala4228Gly | |
| NM_201384.2:c.12671C>G | NP_958786.1:p.Ala4224Gly | |
| XM_005250976.2:c.13097C>G | XP_005251033.1:p.Ala4366Gly | |
| XM_005250978.2:c.12698C>G | XP_005251035.1:p.Ala4233Gly | |
| XM_005250979.3:c.12686C>G | XP_005251036.1:p.Ala4229Gly | |
| XM_005250980.3:c.12686C>G | XP_005251037.1:p.Ala4229Gly | |
| XM_005250981.2:c.12644C>G | XP_005251038.1:p.Ala4215Gly | |
| XM_005250982.2:c.12620C>G | XP_005251039.1:p.Ala4207Gly | |
| XM_005250983.2:c.12602C>G | XP_005251040.1:p.Ala4201Gly | |
| XM_005250984.3:c.12590C>G | XP_005251041.1:p.Ala4197Gly | |
| XM_006716588.2:c.12767C>G | XP_006716651.1:p.Ala4256Gly | |
| XM_006716589.2:c.12617C>G | XP_006716652.1:p.Ala4206Gly | |
| XM_006716590.2:c.12617C>G | XP_006716653.1:p.Ala4206Gly | |
| XM_011517130.1:c.12686C>G | XP_011515432.1:p.Ala4229Gly | |
| XM_011517131.1:c.12602C>G | XP_011515433.1:p.Ala4201Gly | |
| XM_011517132.1:c.9317C>G | XP_011515434.1:p.Ala3106Gly | |
| XM_005250976.4:c.13097C>G | XP_005251033.1:p.Ala4366Gly | |
| XM_005250978.3:c.12698C>G | XP_005251035.1:p.Ala4233Gly | |
| XM_005250979.4:c.12686C>G | XP_005251036.1:p.Ala4229Gly | |
| XM_005250980.4:c.12686C>G | XP_005251037.1:p.Ala4229Gly | |
| XM_005250981.3:c.12644C>G | XP_005251038.1:p.Ala4215Gly | |
| XM_005250982.4:c.12620C>G | XP_005251039.1:p.Ala4207Gly | |
| XM_005250984.5:c.12590C>G | XP_005251041.1:p.Ala4197Gly | |
| XM_006716588.3:c.12767C>G | XP_006716651.1:p.Ala4256Gly | |
| XM_006716590.3:c.12617C>G | XP_006716653.1:p.Ala4206Gly | |
| XM_011517130.2:c.12686C>G | XP_011515432.1:p.Ala4229Gly | |
| XM_011517131.2:c.12602C>G | XP_011515433.1:p.Ala4201Gly | |
| XM_011517132.2:c.9317C>G | XP_011515434.1:p.Ala3106Gly | |
| NM_000445.5:c.12752C>G | NP_000436.2:p.Ala4251Gly | |
| NM_201378.4:c.12629C>G MANE Plus Clinical | NP_958780.1:p.Ala4210Gly | |
| NM_201379.3:c.12605C>G | NP_958781.1:p.Ala4202Gly | |
| NM_201380.4:c.13082C>G | NP_958782.1:p.Ala4361Gly | |
| NM_201381.3:c.12575C>G | NP_958783.1:p.Ala4192Gly | |
| NM_201382.4:c.12671C>G | NP_958784.1:p.Ala4224Gly | |
| NM_201383.3:c.12683C>G | NP_958785.1:p.Ala4228Gly | |
| NM_201384.3:c.12671C>G MANE Select | NP_958786.1:p.Ala4224Gly |