Linked Data
ClinVar Variation Id:
473104
ClinVar RCV Id:
RCV000536221
dbSNP Id:
rs371118771
ExAC:
8:133622402 C / T
gnomAD v2:
8-133622402-C-T
gnomAD v3:
8-132610156-C-T
gnomAD v4:
8-132610156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132610156C>T , CM000670.2:g.132610156C>T | GRCh38 |
| NC_000008.10:g.133622402C>T , CM000670.1:g.133622402C>T | GRCh37 |
| NC_000008.9:g.133691584C>T | NCBI36 |
| NG_033068.1:g.70462G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1140+10G>A MANE Select | ENSP00000484634.1:n.1140+10G>A | |
| ENST00000250173.5:c.1131+10G>A | ENSP00000250173.2:n.1131+10G>A | |
| ENST00000518642.5:c.1135+6G>A | ENSP00000428610.1:n.1135+6G>A | |
| ENST00000519085.5:c.304+10G>A | ||
| ENST00000519595.5:c.1144+6G>A | ENSP00000429791.1:n.1144+6G>A | |
| ENST00000522597.1:n.413+6G>A | ||
| ENST00000522789.5:c.364+6G>A | ENSP00000428015.1:n.364+6G>A | |
| ENST00000618342.1:c.1140+10G>A | ENSP00000484802.1:n.1140+10G>A | |
| ENST00000620350.4:c.1140+10G>A | ENSP00000484634.1:n.1140+10G>A | |
| NM_012472.4:c.1140+10G>A | NP_036604.2:n.1140+10G>A | |
| NR_073525.1:n.1255+10G>A | ||
| XM_006716538.2:c.1158+10G>A | XP_006716601.2:n.1158+10G>A | |
| XM_011516950.1:c.1098+10G>A | XP_011515252.1:n.1098+10G>A | |
| XM_011516951.1:c.1158+10G>A | XP_011515253.1:n.1158+10G>A | |
| XM_011516952.1:c.894+10G>A | XP_011515254.1:n.894+10G>A | |
| XM_011516953.1:c.780+10G>A | XP_011515255.1:n.780+10G>A | |
| XM_011516954.1:c.780+10G>A | XP_011515256.1:n.780+10G>A | |
| XR_428377.2:n.1283+10G>A | ||
| NM_001321961.1:c.1080+10G>A | NP_001308890.1:n.1080+10G>A | |
| NM_001321962.1:c.894+10G>A | NP_001308891.1:n.894+10G>A | |
| NM_001321963.1:c.780+10G>A | NP_001308892.1:n.780+10G>A | |
| NM_001321964.1:c.780+10G>A | NP_001308893.1:n.780+10G>A | |
| NM_001321965.1:c.780+10G>A | NP_001308894.1:n.780+10G>A | |
| NM_001321966.1:c.720+10G>A | NP_001308895.1:n.720+10G>A | |
| NM_012472.5:c.1140+10G>A | NP_036604.2:n.1140+10G>A | |
| NR_073525.2:n.1255+10G>A | ||
| NR_135905.1:n.1353+10G>A | ||
| NR_135906.1:n.794+10G>A | ||
| NR_135907.1:n.1040+10G>A | ||
| NR_135908.1:n.734+10G>A | ||
| NR_135909.1:n.1158+10G>A | ||
| NR_135910.1:n.1465+10G>A | ||
| NR_135911.1:n.1544+10G>A | ||
| NR_135912.1:n.2103+10G>A | ||
| NR_135913.1:n.1790+10G>A | ||
| XM_006716538.3:c.1158+10G>A | XP_006716601.2:n.1158+10G>A | |
| XM_011516950.2:c.1098+10G>A | XP_011515252.1:n.1098+10G>A | |
| XM_017013296.1:c.1038+10G>A | XP_016868785.1:n.1038+10G>A | |
| XM_017013297.1:c.780+10G>A | XP_016868786.1:n.780+10G>A | |
| XM_017013298.1:c.780+10G>A | XP_016868787.1:n.780+10G>A | |
| NM_012472.6:c.1140+10G>A MANE Select | NP_036604.2:n.1140+10G>A | |
| NM_001321961.2:c.1080+10G>A | NP_001308890.1:n.1080+10G>A | |
| NM_001321962.2:c.894+10G>A | NP_001308891.1:n.894+10G>A | |
| NM_001321963.2:c.780+10G>A | NP_001308892.1:n.780+10G>A | |
| NM_001321964.2:c.780+10G>A | NP_001308893.1:n.780+10G>A | |
| NM_001321965.2:c.780+10G>A | NP_001308894.1:n.780+10G>A | |
| NM_001321966.2:c.720+10G>A | NP_001308895.1:n.720+10G>A | |
| NR_073525.3:n.1183+10G>A | ||
| NR_135905.2:n.1281+10G>A | ||
| NR_135906.2:n.722+10G>A | ||
| NR_135907.2:n.968+10G>A | ||
| NR_135908.2:n.662+10G>A | ||
| NR_135909.2:n.1178+10G>A | ||
| NR_135910.2:n.1528+10G>A | ||
| NR_135911.2:n.1648+10G>A | ||
| NR_135912.2:n.2207+10G>A | ||
| NR_135913.2:n.1894+10G>A |