Linked Data
ClinVar Variation Id:
416883
dbSNP Id:
rs369037495
ExAC:
8:90947848 G / A
gnomAD v2:
8-90947848-G-A
gnomAD v3:
8-89935620-G-A
gnomAD v4:
8-89935620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89935620G>A , CM000670.2:g.89935620G>A | GRCh38 |
| NC_000008.10:g.90947848G>A , CM000670.1:g.90947848G>A | GRCh37 |
| NC_000008.9:g.91017024G>A | NCBI36 |
| NG_008860.1:g.54052C>T , LRG_158:g.54052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3655-8C>T | ||
| ENST00000494804.2:n.3537-8C>T | ||
| ENST00000517337.2:c.1989-8C>T | ENSP00000429971.2:n.1989-8C>T | |
| ENST00000523444.2:c.1989-8C>T | ENSP00000428252.2:n.1989-8C>T | |
| ENST00000697292.1:c.2235-8C>T | ENSP00000513229.1:n.2235-8C>T | |
| ENST00000697293.1:c.2286-8C>T | ENSP00000513230.1:n.2286-8C>T | |
| ENST00000697294.1:c.*1846-8C>T | ENSP00000513231.1:n.*1846-8C>T | |
| ENST00000697295.1:c.*1544-8C>T | ENSP00000513232.1:n.*1544-8C>T | |
| ENST00000697296.1:c.*1903-8C>T | ENSP00000513233.1:n.*1903-8C>T | |
| ENST00000697297.1:n.4020-8C>T | ||
| ENST00000697298.1:c.1989-8C>T | ENSP00000513234.1:n.1989-8C>T | |
| ENST00000697299.1:c.1989-8C>T | ENSP00000513235.1:n.1989-8C>T | |
| ENST00000697300.1:c.*1839-8C>T | ENSP00000513236.1:n.*1839-8C>T | |
| ENST00000697301.1:c.*1756-8C>T | ENSP00000513237.1:n.*1756-8C>T | |
| ENST00000697302.1:c.*1756-8C>T | ENSP00000513238.1:n.*1756-8C>T | |
| ENST00000697303.1:c.*1839-8C>T | ENSP00000513239.1:n.*1839-8C>T | |
| ENST00000697304.1:c.1923-8C>T | ENSP00000513240.1:n.1923-8C>T | |
| ENST00000697305.1:n.2502-8C>T | ||
| ENST00000697306.1:c.*2786-8C>T | ENSP00000513241.1:n.*2786-8C>T | |
| ENST00000697307.1:c.2010-8C>T | ENSP00000513242.1:n.2010-8C>T | |
| ENST00000697308.1:c.2166-8C>T | ENSP00000513243.1:n.2166-8C>T | |
| ENST00000697309.1:c.2185-8C>T | ENSP00000513244.1:n.2185-8C>T | |
| ENST00000697310.1:c.2235-8C>T | ENSP00000513245.1:n.2235-8C>T | |
| ENST00000697311.1:c.*500-8C>T | ENSP00000513246.1:n.*500-8C>T | |
| ENST00000697312.1:c.*1688-8C>T | ENSP00000513247.1:n.*1688-8C>T | |
| ENST00000697313.1:n.2688-8C>T | ||
| ENST00000697314.1:n.3637-8C>T | ||
| ENST00000697315.1:c.*139-8C>T | ENSP00000513248.1:n.*139-8C>T | |
| ENST00000265433.8:c.2235-8C>T MANE Select | ENSP00000265433.4:n.2235-8C>T | |
| ENST00000265433.7:c.2235-8C>T | ENSP00000265433.3:n.2235-8C>T | |
| ENST00000396252.6:c.*2108-8C>T | ENSP00000379551.2:n.*2108-8C>T | |
| ENST00000409330.5:c.1989-8C>T | ENSP00000386924.1:n.1989-8C>T | |
| ENST00000474821.1:n.323-8C>T | ||
| ENST00000613033.1:c.345-8C>T | ENSP00000484487.1:n.345-8C>T | |
| NM_001024688.2:c.1989-8C>T | NP_001019859.1:n.1989-8C>T | |
| NM_002485.4:c.2235-8C>T , LRG_158t1:c.2235-8C>T | NP_002476.2:n.2235-8C>T | |
| XM_011517044.1:c.2211-8C>T | XP_011515346.1:n.2211-8C>T | |
| XM_011517045.1:c.1989-8C>T | XP_011515347.1:n.1989-8C>T | |
| XM_017013460.1:c.1356-8C>T | XP_016868949.1:n.1356-8C>T | |
| XM_017013462.2:c.1356-8C>T | XP_016868951.1:n.1356-8C>T | |
| XM_024447163.1:c.1989-8C>T | XP_024302931.1:n.1989-8C>T | |
| XM_024447164.1:c.1989-8C>T | XP_024302932.1:n.1989-8C>T | |
| XM_024447165.1:c.1356-8C>T | XP_024302933.1:n.1356-8C>T | |
| NM_002485.5:c.2235-8C>T MANE Select | NP_002476.2:n.2235-8C>T | |
| NM_001024688.3:c.1989-8C>T | NP_001019859.1:n.1989-8C>T |