Linked Data
ClinVar Variation Id:
260280
ClinVar RCV Id:
RCV000248058
dbSNP Id:
rs761412567
ExAC:
8:133627351 T / C
gnomAD v2:
8-133627351-T-C
gnomAD v4:
8-132615105-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132615105T>C , CM000670.2:g.132615105T>C | GRCh38 |
| NC_000008.10:g.133627351T>C , CM000670.1:g.133627351T>C | GRCh37 |
| NC_000008.9:g.133696533T>C | NCBI36 |
| NG_033068.1:g.65513A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.915-8A>G MANE Select | ENSP00000484634.1:n.915-8A>G | |
| ENST00000250173.5:c.915-8A>G | ENSP00000250173.2:n.915-8A>G | |
| ENST00000518642.5:c.915-8A>G | ENSP00000428610.1:n.915-8A>G | |
| ENST00000519085.5:c.79-8A>G | ||
| ENST00000519595.5:c.915-8A>G | ENSP00000429791.1:n.915-8A>G | |
| ENST00000522597.1:n.184-8A>G | ||
| ENST00000522789.5:c.195-3742A>G | ENSP00000428015.1:n.195-3742A>G | |
| ENST00000618342.1:c.915-8A>G | ENSP00000484802.1:n.915-8A>G | |
| ENST00000620350.4:c.915-8A>G | ENSP00000484634.1:n.915-8A>G | |
| NM_012472.4:c.915-8A>G | NP_036604.2:n.915-8A>G | |
| NR_073525.1:n.1039-8A>G | ||
| XM_006716538.2:c.933-8A>G | XP_006716601.2:n.933-8A>G | |
| XM_011516950.1:c.933-3742A>G | XP_011515252.1:n.933-3742A>G | |
| XM_011516951.1:c.933-8A>G | XP_011515253.1:n.933-8A>G | |
| XM_011516952.1:c.669-8A>G | XP_011515254.1:n.669-8A>G | |
| XM_011516953.1:c.555-8A>G | XP_011515255.1:n.555-8A>G | |
| XM_011516954.1:c.555-8A>G | XP_011515256.1:n.555-8A>G | |
| XR_428377.2:n.1058-8A>G | ||
| NM_001321961.1:c.915-3742A>G | NP_001308890.1:n.915-3742A>G | |
| NM_001321962.1:c.669-8A>G | NP_001308891.1:n.669-8A>G | |
| NM_001321963.1:c.555-8A>G | NP_001308892.1:n.555-8A>G | |
| NM_001321964.1:c.555-8A>G | NP_001308893.1:n.555-8A>G | |
| NM_001321965.1:c.555-8A>G | NP_001308894.1:n.555-8A>G | |
| NM_001321966.1:c.555-3742A>G | NP_001308895.1:n.555-3742A>G | |
| NM_012472.5:c.915-8A>G | NP_036604.2:n.915-8A>G | |
| NR_073525.2:n.1039-8A>G | ||
| NR_135905.1:n.1128-8A>G | ||
| NR_135906.1:n.569-8A>G | ||
| NR_135907.1:n.815-8A>G | ||
| NR_135908.1:n.569-3742A>G | ||
| NR_135909.1:n.933-8A>G | ||
| NR_135910.1:n.1240-8A>G | ||
| NR_135911.1:n.1319-8A>G | ||
| NR_135912.1:n.1878-8A>G | ||
| NR_135913.1:n.1565-8A>G | ||
| XM_006716538.3:c.933-8A>G | XP_006716601.2:n.933-8A>G | |
| XM_011516950.2:c.933-3742A>G | XP_011515252.1:n.933-3742A>G | |
| XM_017013296.1:c.813-8A>G | XP_016868785.1:n.813-8A>G | |
| XM_017013297.1:c.555-8A>G | XP_016868786.1:n.555-8A>G | |
| XM_017013298.1:c.555-8A>G | XP_016868787.1:n.555-8A>G | |
| NM_012472.6:c.915-8A>G MANE Select | NP_036604.2:n.915-8A>G | |
| NM_001321961.2:c.915-3742A>G | NP_001308890.1:n.915-3742A>G | |
| NM_001321962.2:c.669-8A>G | NP_001308891.1:n.669-8A>G | |
| NM_001321963.2:c.555-8A>G | NP_001308892.1:n.555-8A>G | |
| NM_001321964.2:c.555-8A>G | NP_001308893.1:n.555-8A>G | |
| NM_001321965.2:c.555-8A>G | NP_001308894.1:n.555-8A>G | |
| NM_001321966.2:c.555-3742A>G | NP_001308895.1:n.555-3742A>G | |
| NR_073525.3:n.967-8A>G | ||
| NR_135905.2:n.1056-8A>G | ||
| NR_135906.2:n.497-8A>G | ||
| NR_135907.2:n.743-8A>G | ||
| NR_135908.2:n.497-3742A>G | ||
| NR_135909.2:n.953-8A>G | ||
| NR_135910.2:n.1303-8A>G | ||
| NR_135911.2:n.1423-8A>G | ||
| NR_135912.2:n.1982-8A>G | ||
| NR_135913.2:n.1669-8A>G |