Linked Data
dbSNP Id:
rs751511324
ExAC:
20:3650378 G / C
gnomAD v2:
20-3650378-G-C
gnomAD v3:
20-3669731-G-C
gnomAD v4:
20-3669731-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669731G>C , CM000682.2:g.3669731G>C | GRCh38 |
| NC_000020.10:g.3650378G>C , CM000682.1:g.3650378G>C | GRCh37 |
| NC_000020.9:g.3598378G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.2241-94C>G MANE Select | ENSP00000348912.3:n.2241-94C>G | |
| ENST00000350009.6:c.2163-94C>G | ENSP00000322550.5:n.2163-94C>G | |
| ENST00000356518.6:c.2241-94C>G | ENSP00000348912.2:n.2241-94C>G | |
| ENST00000379861.8:c.2241-94C>G | ENSP00000369190.4:n.2241-94C>G | |
| ENST00000466620.5:n.1802-94C>G | ||
| ENST00000483362.1:n.895C>G | ||
| ENST00000617732.1:c.*928-94C>G | ENSP00000483343.1:n.*928-94C>G | |
| ENST00000619289.4:c.1881-94C>G | ENSP00000484600.1:n.1881-94C>G | |
| NM_001282447.1:c.2241-94C>G | NP_001269376.1:n.2241-94C>G | |
| NM_025220.3:c.2241-94C>G | NP_079496.1:n.2241-94C>G | |
| NM_153202.2:c.2163-94C>G | NP_694882.1:n.2163-94C>G | |
| XM_005260843.1:c.2280-94C>G | XP_005260900.1:n.2280-94C>G | |
| XM_006723639.1:c.2280-94C>G | XP_006723702.1:n.2280-94C>G | |
| XM_006723640.1:c.2271-94C>G | XP_006723703.1:n.2271-94C>G | |
| XM_011529366.1:c.2277-94C>G | XP_011527668.1:n.2277-94C>G | |
| XM_011529367.1:c.2238-94C>G | XP_011527669.1:n.2238-94C>G | |
| XM_011529368.1:c.2202-94C>G | XP_011527670.1:n.2202-94C>G | |
| XM_011529373.1:c.1278-94C>G | XP_011527675.1:n.1278-94C>G | |
| XR_937151.1:n.2384-361C>G | ||
| XR_937152.1:n.2384-361C>G | ||
| XR_937153.1:n.2265-94C>G | ||
| XR_937154.1:n.2265-94C>G | ||
| XR_937155.1:n.2186-94C>G | ||
| XR_937157.1:n.2188-94C>G | ||
| NM_001282447.2:c.2241-94C>G | NP_001269376.1:n.2241-94C>G | |
| NM_025220.4:c.2241-94C>G | NP_079496.1:n.2241-94C>G | |
| NM_153202.3:c.2163-94C>G | NP_694882.1:n.2163-94C>G | |
| XM_011529373.2:c.1278-94C>G | XP_011527675.1:n.1278-94C>G | |
| XR_001754405.1:n.2352-94C>G | ||
| XR_002958534.1:n.2461-94C>G | ||
| NM_001282447.3:c.2241-94C>G | NP_001269376.1:n.2241-94C>G | |
| NM_025220.5:c.2241-94C>G MANE Select | NP_079496.1:n.2241-94C>G | |
| NM_153202.4:c.2163-94C>G | NP_694882.1:n.2163-94C>G |