Linked Data
ClinVar Variation Id:
140454
dbSNP Id:
rs145092287
ExAC:
1:41475832 G / C
gnomAD v2:
1-41475832-G-C
gnomAD v3:
1-41010160-G-C
gnomAD v4:
1-41010160-G-C
PubMed:
PMID:24870241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41010160G>C , CM000663.2:g.41010160G>C | GRCh38 |
| NC_000001.10:g.41475832G>C , CM000663.1:g.41475832G>C | GRCh37 |
| NC_000001.9:g.41248419G>C | NCBI36 |
| NG_034208.1:g.35862G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470271.6:c.1692-1G>C | ENSP00000497901.2:n.1692-1G>C | |
| ENST00000648020.2:c.*1883-1G>C | ENSP00000497714.1:n.*1883-1G>C | |
| ENST00000649124.2:c.1692-1G>C | ENSP00000497744.1:n.1692-1G>C | |
| ENST00000650634.2:n.3286-1G>C | ||
| ENST00000696070.1:c.999-1G>C | ENSP00000512372.1:n.999-1G>C | |
| ENST00000696107.1:c.*239-1G>C | ENSP00000512401.1:n.*239-1G>C | |
| ENST00000696108.1:c.*426-1G>C | ENSP00000512402.1:n.*426-1G>C | |
| ENST00000696109.1:n.2036-1G>C | ||
| ENST00000463423.6:c.966-1G>C | ||
| ENST00000480420.6:n.1829-1G>C | ||
| ENST00000486889.2:n.4343-1G>C | ||
| ENST00000498694.2:n.1873-1G>C | ||
| ENST00000648020.1:c.*1883-1G>C | ENSP00000497714.1:n.*1883-1G>C | |
| ENST00000648801.1:n.3103-1G>C | ||
| ENST00000648914.1:c.*239-1G>C | ENSP00000496963.1:n.*239-1G>C | |
| ENST00000649124.1:c.1692-1G>C | ENSP00000497744.1:n.1692-1G>C | |
| ENST00000649215.1:c.1224-1G>C | ENSP00000497698.1:n.1224-1G>C | |
| ENST00000649864.1:c.*567G>C | ENSP00000496792.1:n.*567G>C | |
| ENST00000650070.2:c.1692-1G>C MANE Select | ENSP00000497602.1:n.1692-1G>C | |
| ENST00000650634.1:n.3153-1G>C | ||
| ENST00000372616.1:c.1692-1G>C | ENSP00000361699.1:n.1692-1G>C | |
| ENST00000372621.8:c.1692-1G>C | ENSP00000361704.4:n.1692-1G>C | |
| ENST00000463423.5:n.364-1G>C | ||
| ENST00000498694.1:n.409-1G>C | ||
| NM_001301237.1:c.1224-1G>C | NP_001288166.1:n.1224-1G>C | |
| NM_001905.3:c.1692-1G>C | NP_001896.2:n.1692-1G>C | |
| NR_125440.1:n.2315-1G>C | ||
| XM_005270536.1:c.1692-1G>C | XP_005270593.1:n.1692-1G>C | |
| XM_006710390.2:c.1692-1G>C | XP_006710453.1:n.1692-1G>C | |
| XM_006710391.1:c.1692-1G>C | XP_006710454.1:n.1692-1G>C | |
| XM_011540821.1:c.1713-1G>C | XP_011539123.1:n.1713-1G>C | |
| XR_946557.1:n.1745-1G>C | ||
| NM_001905.4:c.1692-1G>C MANE Select | NP_001896.2:n.1692-1G>C | |
| XM_024453552.1:c.1713-1G>C | XP_024309320.1:n.1713-1G>C | |
| XM_024453553.1:c.1692-1G>C | XP_024309321.1:n.1692-1G>C | |
| XM_024453554.1:c.1692-1G>C | XP_024309322.1:n.1692-1G>C | |
| XR_001737003.1:n.1742-1G>C | ||
| XR_001737004.1:n.3038-1G>C | ||
| XR_002959539.1:n.1740-1G>C | ||
| NM_001301237.2:c.1224-1G>C | NP_001288166.1:n.1224-1G>C | |
| NR_125440.2:n.1918-1G>C |