Linked Data
dbSNP Id:
rs752642852
ExAC:
20:3652434 G / A
gnomAD v2:
20-3652434-G-A
gnomAD v3:
20-3671787-G-A
gnomAD v4:
20-3671787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671787G>A , CM000682.2:g.3671787G>A | GRCh38 |
| NC_000020.10:g.3652434G>A , CM000682.1:g.3652434G>A | GRCh37 |
| NC_000020.9:g.3600434G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1707-8C>T MANE Select | ENSP00000348912.3:n.1707-8C>T | |
| ENST00000350009.6:c.1707-8C>T | ENSP00000322550.5:n.1707-8C>T | |
| ENST00000356518.6:c.1707-8C>T | ENSP00000348912.2:n.1707-8C>T | |
| ENST00000379861.8:c.1707-8C>T | ENSP00000369190.4:n.1707-8C>T | |
| ENST00000466620.5:n.1346-8C>T | ||
| ENST00000617732.1:c.*632-330C>T | ENSP00000483343.1:n.*632-330C>T | |
| ENST00000619289.4:c.1347-8C>T | ENSP00000484600.1:n.1347-8C>T | |
| NM_001282447.1:c.1707-8C>T | NP_001269376.1:n.1707-8C>T | |
| NM_025220.3:c.1707-8C>T | NP_079496.1:n.1707-8C>T | |
| NM_153202.2:c.1707-8C>T | NP_694882.1:n.1707-8C>T | |
| XM_005260843.1:c.1746-8C>T | XP_005260900.1:n.1746-8C>T | |
| XM_006723639.1:c.1746-8C>T | XP_006723702.1:n.1746-8C>T | |
| XM_006723640.1:c.1737-8C>T | XP_006723703.1:n.1737-8C>T | |
| XM_011529366.1:c.1743-8C>T | XP_011527668.1:n.1743-8C>T | |
| XM_011529367.1:c.1704-8C>T | XP_011527669.1:n.1704-8C>T | |
| XM_011529368.1:c.1746-8C>T | XP_011527670.1:n.1746-8C>T | |
| XM_011529369.1:c.1714-8C>T | XP_011527671.1:n.1714-8C>T | |
| XM_011529370.1:c.1714-8C>T | XP_011527672.1:n.1714-8C>T | |
| XM_011529373.1:c.744-8C>T | XP_011527675.1:n.744-8C>T | |
| XR_937151.1:n.1850-8C>T | ||
| XR_937152.1:n.1850-8C>T | ||
| XR_937153.1:n.1731-8C>T | ||
| XR_937154.1:n.1731-8C>T | ||
| XR_937155.1:n.1652-8C>T | ||
| XR_937157.1:n.1654-8C>T | ||
| NM_001282447.2:c.1707-8C>T | NP_001269376.1:n.1707-8C>T | |
| NM_025220.4:c.1707-8C>T | NP_079496.1:n.1707-8C>T | |
| NM_153202.3:c.1707-8C>T | NP_694882.1:n.1707-8C>T | |
| XM_011529373.2:c.744-8C>T | XP_011527675.1:n.744-8C>T | |
| XR_001754405.1:n.1818-8C>T | ||
| XR_002958534.1:n.1927-8C>T | ||
| NM_001282447.3:c.1707-8C>T | NP_001269376.1:n.1707-8C>T | |
| NM_025220.5:c.1707-8C>T MANE Select | NP_079496.1:n.1707-8C>T | |
| NM_153202.4:c.1707-8C>T | NP_694882.1:n.1707-8C>T |