Linked Data
ClinVar Variation Id:
1123977
ClinVar RCV Id:
RCV001455221
dbSNP Id:
rs753974074
ExAC:
11:76922268 C / T
gnomAD v2:
11-76922268-C-T
gnomAD v4:
11-77211223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211223C>T , CM000673.2:g.77211223C>T | GRCh38 |
| NC_000011.9:g.76922268C>T , CM000673.1:g.76922268C>T | GRCh37 |
| NC_000011.8:g.76599916C>T | NCBI36 |
| NG_009086.1:g.87959C>T | |
| NG_009086.2:g.87978C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6123C>T MANE Select | ENSP00000386331.3:p.Ile2041= | |
| ENST00000670577.1:c.3924C>T | ||
| ENST00000409619.6:c.5976C>T | ENSP00000386635.2:p.Ile1992= | |
| ENST00000409709.7:c.6123C>T | ENSP00000386331.3:p.Ile2041= | |
| ENST00000458169.2:c.3549C>T | ENSP00000417017.2:p.Ile1183= | |
| ENST00000458637.6:c.6009C>T | ENSP00000392185.2:p.Ile2003= | |
| ENST00000481328.7:n.3659C>T | ||
| ENST00000526863.2:n.25+312C>T | ||
| ENST00000605744.1:n.1590C>T | ||
| NM_000260.3:c.6123C>T | NP_000251.3:p.Ile2041= | |
| NM_001127180.1:c.6009C>T | NP_001120652.1:p.Ile2003= | |
| XM_005274012.2:c.6006C>T | XP_005274069.1:p.Ile2002= | |
| XM_006718558.2:c.6114C>T | XP_006718621.1:p.Ile2038= | |
| XM_006718559.2:c.6009C>T | XP_006718622.1:p.Ile2003= | |
| XM_006718560.2:c.6006C>T | XP_006718623.1:p.Ile2002= | |
| XM_006718561.2:c.6009C>T | XP_006718624.1:p.Ile2003= | |
| XM_011545044.1:c.6123C>T | XP_011543346.1:p.Ile2041= | |
| XM_011545045.1:c.6117C>T | XP_011543347.1:p.Ile2039= | |
| XM_011545046.1:c.6090C>T | XP_011543348.1:p.Ile2030= | |
| XM_011545047.1:c.6027C>T | XP_011543349.1:p.Ile2009= | |
| XM_011545048.1:c.5898C>T | XP_011543350.1:p.Ile1966= | |
| XM_011545049.1:c.5886C>T | XP_011543351.1:p.Ile1962= | |
| XM_011545050.1:c.5859C>T | XP_011543352.1:p.Ile1953= | |
| XM_011545051.1:c.6123C>T | XP_011543353.1:p.Ile2041= | |
| XR_949938.1:n.6443C>T | ||
| XR_949941.1:n.6417C>T | ||
| XM_011545044.2:c.6123C>T | XP_011543346.1:p.Ile2041= | |
| XM_011545046.2:c.6213C>T | XP_011543348.2:p.Ile2071= | |
| XM_011545050.2:c.5859C>T | XP_011543352.1:p.Ile1953= | |
| XM_017017778.1:c.6207C>T | XP_016873267.1:p.Ile2069= | |
| XM_017017779.1:c.6204C>T | XP_016873268.1:p.Ile2068= | |
| XM_017017780.1:c.6213C>T | XP_016873269.1:p.Ile2071= | |
| XM_017017781.1:c.6117C>T | XP_016873270.1:p.Ile2039= | |
| XM_017017782.1:c.6099C>T | XP_016873271.1:p.Ile2033= | |
| XM_017017783.1:c.6096C>T | XP_016873272.1:p.Ile2032= | |
| XM_017017784.1:c.6096C>T | XP_016873273.1:p.Ile2032= | |
| XM_017017785.1:c.5976C>T | XP_016873274.1:p.Ile1992= | |
| XM_017017786.1:c.6213C>T | XP_016873275.1:p.Ile2071= | |
| XM_017017788.1:c.6099C>T | XP_016873277.1:p.Ile2033= | |
| XR_001747885.1:n.6202C>T | ||
| XR_001747886.1:n.6143C>T | ||
| XR_001747887.1:n.6188C>T | ||
| NM_000260.4:c.6123C>T MANE Select | NP_000251.3:p.Ile2041= | |
| NM_001127180.2:c.6009C>T | NP_001120652.1:p.Ile2003= | |
| NM_001369365.1:c.5976C>T | NP_001356294.1:p.Ile1992= |