Linked Data
ClinVar Variation Id:
288526
dbSNP Id:
rs768594224
ExAC:
11:76914099 C / T
gnomAD v2:
11-76914099-C-T
gnomAD v3:
11-77203054-C-T
gnomAD v4:
11-77203054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77203054C>T , CM000673.2:g.77203054C>T | GRCh38 |
| NC_000011.9:g.76914099C>T , CM000673.1:g.76914099C>T | GRCh37 |
| NC_000011.8:g.76591747C>T | NCBI36 |
| NG_009086.1:g.79790C>T | |
| NG_009086.2:g.79809C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5169-6C>T MANE Select | ENSP00000386331.3:n.5169-6C>T | |
| ENST00000670577.1:c.3010-6C>T | ||
| ENST00000409619.6:c.5022-6C>T | ENSP00000386635.2:n.5022-6C>T | |
| ENST00000409709.7:c.5169-6C>T | ENSP00000386331.3:n.5169-6C>T | |
| ENST00000458169.2:c.2595-6C>T | ENSP00000417017.2:n.2595-6C>T | |
| ENST00000458637.6:c.5055-6C>T | ENSP00000392185.2:n.5055-6C>T | |
| ENST00000481328.7:n.2705-6C>T | ||
| NM_000260.3:c.5169-6C>T | NP_000251.3:n.5169-6C>T | |
| NM_001127180.1:c.5055-6C>T | NP_001120652.1:n.5055-6C>T | |
| XM_005274012.2:c.5052-6C>T | XP_005274069.1:n.5052-6C>T | |
| XM_006718558.2:c.5160-6C>T | XP_006718621.1:n.5160-6C>T | |
| XM_006718559.2:c.5055-6C>T | XP_006718622.1:n.5055-6C>T | |
| XM_006718560.2:c.5052-6C>T | XP_006718623.1:n.5052-6C>T | |
| XM_006718561.2:c.5055-6C>T | XP_006718624.1:n.5055-6C>T | |
| XM_011545044.1:c.5169-6C>T | XP_011543346.1:n.5169-6C>T | |
| XM_011545045.1:c.5163-6C>T | XP_011543347.1:n.5163-6C>T | |
| XM_011545046.1:c.5136-6C>T | XP_011543348.1:n.5136-6C>T | |
| XM_011545047.1:c.5073-6C>T | XP_011543349.1:n.5073-6C>T | |
| XM_011545048.1:c.4944-6C>T | XP_011543350.1:n.4944-6C>T | |
| XM_011545049.1:c.4932-6C>T | XP_011543351.1:n.4932-6C>T | |
| XM_011545050.1:c.4905-6C>T | XP_011543352.1:n.4905-6C>T | |
| XM_011545051.1:c.5169-6C>T | XP_011543353.1:n.5169-6C>T | |
| XM_011545052.1:c.5169-6C>T | XP_011543354.1:n.5169-6C>T | |
| XR_949938.1:n.5489-6C>T | ||
| XR_949941.1:n.5489-6C>T | ||
| XR_949942.1:n.5491-6C>T | ||
| XM_011545044.2:c.5169-6C>T | XP_011543346.1:n.5169-6C>T | |
| XM_011545046.2:c.5259-6C>T | XP_011543348.2:n.5259-6C>T | |
| XM_011545050.2:c.4905-6C>T | XP_011543352.1:n.4905-6C>T | |
| XM_017017778.1:c.5253-6C>T | XP_016873267.1:n.5253-6C>T | |
| XM_017017779.1:c.5250-6C>T | XP_016873268.1:n.5250-6C>T | |
| XM_017017780.1:c.5259-6C>T | XP_016873269.1:n.5259-6C>T | |
| XM_017017781.1:c.5163-6C>T | XP_016873270.1:n.5163-6C>T | |
| XM_017017782.1:c.5145-6C>T | XP_016873271.1:n.5145-6C>T | |
| XM_017017783.1:c.5142-6C>T | XP_016873272.1:n.5142-6C>T | |
| XM_017017784.1:c.5142-6C>T | XP_016873273.1:n.5142-6C>T | |
| XM_017017785.1:c.5022-6C>T | XP_016873274.1:n.5022-6C>T | |
| XM_017017786.1:c.5259-6C>T | XP_016873275.1:n.5259-6C>T | |
| XM_017017788.1:c.5145-6C>T | XP_016873277.1:n.5145-6C>T | |
| XR_001747885.1:n.5274-6C>T | ||
| XR_001747886.1:n.5274-6C>T | ||
| XR_001747887.1:n.5274-6C>T | ||
| XR_001747888.1:n.5274-6C>T | ||
| NM_000260.4:c.5169-6C>T MANE Select | NP_000251.3:n.5169-6C>T | |
| NM_001127180.2:c.5055-6C>T | NP_001120652.1:n.5055-6C>T | |
| NM_001369365.1:c.5022-6C>T | NP_001356294.1:n.5022-6C>T |