Linked Data
ClinVar Variation Id:
361903
ClinVar RCV Id:
RCV000353374
dbSNP Id:
rs780037666
ExAC:
8:133627270 G / T
gnomAD v2:
8-133627270-G-T
gnomAD v3:
8-132615024-G-T
gnomAD v4:
8-132615024-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132615024G>T , CM000670.2:g.132615024G>T | GRCh38 |
| NC_000008.10:g.133627270G>T , CM000670.1:g.133627270G>T | GRCh37 |
| NC_000008.9:g.133696452G>T | NCBI36 |
| NG_033068.1:g.65594C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.974+14C>A MANE Select | ENSP00000484634.1:n.974+14C>A | |
| ENST00000250173.5:c.974+14C>A | ENSP00000250173.2:n.974+14C>A | |
| ENST00000518642.5:c.974+14C>A | ENSP00000428610.1:n.974+14C>A | |
| ENST00000519085.5:c.138+14C>A | ||
| ENST00000519595.5:c.974+14C>A | ENSP00000429791.1:n.974+14C>A | |
| ENST00000522597.1:n.243+14C>A | ||
| ENST00000522789.5:c.195-3661C>A | ENSP00000428015.1:n.195-3661C>A | |
| ENST00000618342.1:c.974+14C>A | ENSP00000484802.1:n.974+14C>A | |
| ENST00000620350.4:c.974+14C>A | ENSP00000484634.1:n.974+14C>A | |
| NM_012472.4:c.974+14C>A | NP_036604.2:n.974+14C>A | |
| NR_073525.1:n.1098+14C>A | ||
| XM_006716538.2:c.992+14C>A | XP_006716601.2:n.992+14C>A | |
| XM_011516950.1:c.933-3661C>A | XP_011515252.1:n.933-3661C>A | |
| XM_011516951.1:c.992+14C>A | XP_011515253.1:n.992+14C>A | |
| XM_011516952.1:c.728+14C>A | XP_011515254.1:n.728+14C>A | |
| XM_011516953.1:c.614+14C>A | XP_011515255.1:n.614+14C>A | |
| XM_011516954.1:c.614+14C>A | XP_011515256.1:n.614+14C>A | |
| XR_428377.2:n.1117+14C>A | ||
| NM_001321961.1:c.915-3661C>A | NP_001308890.1:n.915-3661C>A | |
| NM_001321962.1:c.728+14C>A | NP_001308891.1:n.728+14C>A | |
| NM_001321963.1:c.614+14C>A | NP_001308892.1:n.614+14C>A | |
| NM_001321964.1:c.614+14C>A | NP_001308893.1:n.614+14C>A | |
| NM_001321965.1:c.614+14C>A | NP_001308894.1:n.614+14C>A | |
| NM_001321966.1:c.555-3661C>A | NP_001308895.1:n.555-3661C>A | |
| NM_012472.5:c.974+14C>A | NP_036604.2:n.974+14C>A | |
| NR_073525.2:n.1098+14C>A | ||
| NR_135905.1:n.1187+14C>A | ||
| NR_135906.1:n.628+14C>A | ||
| NR_135907.1:n.874+14C>A | ||
| NR_135908.1:n.569-3661C>A | ||
| NR_135909.1:n.992+14C>A | ||
| NR_135910.1:n.1299+14C>A | ||
| NR_135911.1:n.1378+14C>A | ||
| NR_135912.1:n.1937+14C>A | ||
| NR_135913.1:n.1624+14C>A | ||
| XM_006716538.3:c.992+14C>A | XP_006716601.2:n.992+14C>A | |
| XM_011516950.2:c.933-3661C>A | XP_011515252.1:n.933-3661C>A | |
| XM_017013296.1:c.872+14C>A | XP_016868785.1:n.872+14C>A | |
| XM_017013297.1:c.614+14C>A | XP_016868786.1:n.614+14C>A | |
| XM_017013298.1:c.614+14C>A | XP_016868787.1:n.614+14C>A | |
| NM_012472.6:c.974+14C>A MANE Select | NP_036604.2:n.974+14C>A | |
| NM_001321961.2:c.915-3661C>A | NP_001308890.1:n.915-3661C>A | |
| NM_001321962.2:c.728+14C>A | NP_001308891.1:n.728+14C>A | |
| NM_001321963.2:c.614+14C>A | NP_001308892.1:n.614+14C>A | |
| NM_001321964.2:c.614+14C>A | NP_001308893.1:n.614+14C>A | |
| NM_001321965.2:c.614+14C>A | NP_001308894.1:n.614+14C>A | |
| NM_001321966.2:c.555-3661C>A | NP_001308895.1:n.555-3661C>A | |
| NR_073525.3:n.1026+14C>A | ||
| NR_135905.2:n.1115+14C>A | ||
| NR_135906.2:n.556+14C>A | ||
| NR_135907.2:n.802+14C>A | ||
| NR_135908.2:n.497-3661C>A | ||
| NR_135909.2:n.1012+14C>A | ||
| NR_135910.2:n.1362+14C>A | ||
| NR_135911.2:n.1482+14C>A | ||
| NR_135912.2:n.2041+14C>A | ||
| NR_135913.2:n.1728+14C>A |