Linked Data
ClinVar Variation Id:
402266
dbSNP Id:
rs1060499802
gnomAD v2:
11-76922356-C-T
gnomAD v3:
11-77211311-C-T
gnomAD v4:
11-77211311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211311C>T , CM000673.2:g.77211311C>T | GRCh38 |
| NC_000011.9:g.76922356C>T , CM000673.1:g.76922356C>T | GRCh37 |
| NC_000011.8:g.76600004C>T | NCBI36 |
| NG_009086.1:g.88047C>T | |
| NG_009086.2:g.88066C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6211C>T MANE Select | ENSP00000386331.3:p.Gln2071Ter | |
| ENST00000670577.1:c.4012C>T | ||
| ENST00000409619.6:c.6064C>T | ENSP00000386635.2:p.Gln2022Ter | |
| ENST00000409709.7:c.6211C>T | ENSP00000386331.3:p.Gln2071Ter | |
| ENST00000458169.2:c.3637C>T | ENSP00000417017.2:p.Gln1213Ter | |
| ENST00000458637.6:c.6097C>T | ENSP00000392185.2:p.Gln2033Ter | |
| ENST00000481328.7:n.3747C>T | ||
| ENST00000526863.2:n.25+400C>T | ||
| ENST00000605744.1:n.1678C>T | ||
| NM_000260.3:c.6211C>T | NP_000251.3:p.Gln2071Ter | |
| NM_001127180.1:c.6097C>T | NP_001120652.1:p.Gln2033Ter | |
| XM_005274012.2:c.6094C>T | XP_005274069.1:p.Gln2032Ter | |
| XM_006718558.2:c.6202C>T | XP_006718621.1:p.Gln2068Ter | |
| XM_006718559.2:c.6097C>T | XP_006718622.1:p.Gln2033Ter | |
| XM_006718560.2:c.6094C>T | XP_006718623.1:p.Gln2032Ter | |
| XM_006718561.2:c.6097C>T | XP_006718624.1:p.Gln2033Ter | |
| XM_011545044.1:c.6211C>T | XP_011543346.1:p.Gln2071Ter | |
| XM_011545045.1:c.6205C>T | XP_011543347.1:p.Gln2069Ter | |
| XM_011545046.1:c.6178C>T | XP_011543348.1:p.Gln2060Ter | |
| XM_011545047.1:c.6115C>T | XP_011543349.1:p.Gln2039Ter | |
| XM_011545048.1:c.5986C>T | XP_011543350.1:p.Gln1996Ter | |
| XM_011545049.1:c.5974C>T | XP_011543351.1:p.Gln1992Ter | |
| XM_011545050.1:c.5947C>T | XP_011543352.1:p.Gln1983Ter | |
| XM_011545051.1:c.6211C>T | XP_011543353.1:p.Gln2071Ter | |
| XR_949938.1:n.6531C>T | ||
| XR_949941.1:n.6505C>T | ||
| XM_011545044.2:c.6211C>T | XP_011543346.1:p.Gln2071Ter | |
| XM_011545046.2:c.6301C>T | XP_011543348.2:p.Gln2101Ter | |
| XM_011545050.2:c.5947C>T | XP_011543352.1:p.Gln1983Ter | |
| XM_017017778.1:c.6295C>T | XP_016873267.1:p.Gln2099Ter | |
| XM_017017779.1:c.6292C>T | XP_016873268.1:p.Gln2098Ter | |
| XM_017017780.1:c.6301C>T | XP_016873269.1:p.Gln2101Ter | |
| XM_017017781.1:c.6205C>T | XP_016873270.1:p.Gln2069Ter | |
| XM_017017782.1:c.6187C>T | XP_016873271.1:p.Gln2063Ter | |
| XM_017017783.1:c.6184C>T | XP_016873272.1:p.Gln2062Ter | |
| XM_017017784.1:c.6184C>T | XP_016873273.1:p.Gln2062Ter | |
| XM_017017785.1:c.6064C>T | XP_016873274.1:p.Gln2022Ter | |
| XM_017017786.1:c.6301C>T | XP_016873275.1:p.Gln2101Ter | |
| XM_017017788.1:c.6187C>T | XP_016873277.1:p.Gln2063Ter | |
| XR_001747885.1:n.6290C>T | ||
| XR_001747887.1:n.6276C>T | ||
| NM_000260.4:c.6211C>T MANE Select | NP_000251.3:p.Gln2071Ter | |
| NM_001127180.2:c.6097C>T | NP_001120652.1:p.Gln2033Ter | |
| NM_001369365.1:c.6064C>T | NP_001356294.1:p.Gln2022Ter |