Linked Data
ClinVar Variation Id:
43331
dbSNP Id:
rs111033230
ExAC:
11:76924985 C / T
gnomAD v2:
11-76924985-C-T
gnomAD v3:
11-77213940-C-T
gnomAD v4:
11-77213940-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77213940C>T , CM000673.2:g.77213940C>T | GRCh38 |
| NC_000011.9:g.76924985C>T , CM000673.1:g.76924985C>T | GRCh37 |
| NC_000011.8:g.76602633C>T | NCBI36 |
| NG_009086.1:g.90676C>T | |
| NG_009086.2:g.90695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6519C>T MANE Select | ENSP00000386331.3:p.Asn2173= | |
| ENST00000670577.1:c.4320C>T | ||
| ENST00000409619.6:c.6372C>T | ENSP00000386635.2:p.Asn2124= | |
| ENST00000409709.7:c.6519C>T | ENSP00000386331.3:p.Asn2173= | |
| ENST00000458169.2:c.3945C>T | ENSP00000417017.2:p.Asn1315= | |
| ENST00000458637.6:c.6399C>T | ENSP00000392185.2:p.Asn2133= | |
| ENST00000481328.7:n.5069C>T | ||
| ENST00000605744.1:n.2033C>T | ||
| NM_000260.3:c.6519C>T | NP_000251.3:p.Asn2173= | |
| NM_001127180.1:c.6399C>T | NP_001120652.1:p.Asn2133= | |
| XM_005274012.2:c.6402C>T | XP_005274069.1:p.Asn2134= | |
| XM_006718561.2:c.6405C>T | XP_006718624.1:p.Asn2135= | |
| XR_949941.1:n.6813C>T | ||
| XM_017017780.1:c.6609C>T | XP_016873269.1:p.Asn2203= | |
| XM_017017784.1:c.6492C>T | XP_016873273.1:p.Asn2164= | |
| XM_017017788.1:c.6495C>T | XP_016873277.1:p.Asn2165= | |
| XR_001747885.1:n.6598C>T | ||
| XR_001747887.1:n.6584C>T | ||
| NM_000260.4:c.6519C>T MANE Select | NP_000251.3:p.Asn2173= | |
| NM_001127180.2:c.6399C>T | NP_001120652.1:p.Asn2133= | |
| NM_001369365.1:c.6372C>T | NP_001356294.1:p.Asn2124= |