Linked Data
ClinVar Variation Id:
377831
ClinVar RCV Id:
RCV000424558
dbSNP Id:
rs1057520280
gnomAD v4:
5-60904874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904874C>T , CM000667.2:g.60904874C>T | GRCh38 |
| NC_000005.9:g.60200701C>T , CM000667.1:g.60200701C>T | GRCh37 |
| NC_000005.8:g.60236458C>T | NCBI36 |
| NG_009289.1:g.45205G>A , LRG_466:g.45205G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439176.6:c.400-1G>A | ENSP00000408344.2:n.400-1G>A | |
| ENST00000647431.2:c.501-1G>A | ENSP00000494726.2:n.501-1G>A | |
| ENST00000647486.2:c.400-1G>A | ENSP00000494466.2:n.400-1G>A | |
| ENST00000675042.2:c.226-1G>A | ENSP00000502082.2:n.226-1G>A | |
| ENST00000675452.2:c.*365-1G>A | ENSP00000506954.1:n.*365-1G>A | |
| ENST00000682217.1:c.400-1G>A | ENSP00000507570.1:n.400-1G>A | |
| ENST00000682246.1:n.456-1G>A | ||
| ENST00000682375.1:c.*230-1G>A | ENSP00000507551.1:n.*230-1G>A | |
| ENST00000683052.1:c.202-1G>A | ENSP00000507072.1:n.202-1G>A | |
| ENST00000683199.1:n.422-1G>A | ||
| ENST00000683216.1:n.664G>A | ||
| ENST00000683460.1:c.*230-1G>A | ENSP00000507820.1:n.*230-1G>A | |
| ENST00000684394.1:n.455-1G>A | ||
| ENST00000684453.1:n.450-1G>A | ||
| ENST00000684621.1:n.456-1G>A | ||
| ENST00000265038.10:c.400-1G>A | ENSP00000265038.6:n.400-1G>A | |
| ENST00000497892.6:c.*198-1G>A | ENSP00000501805.1:n.*198-1G>A | |
| ENST00000643034.1:c.*292-1G>A | ENSP00000496080.1:n.*292-1G>A | |
| ENST00000643708.1:c.*230-1G>A | ENSP00000494199.1:n.*230-1G>A | |
| ENST00000647431.1:c.452-1G>A | ||
| ENST00000647486.1:c.351-1G>A | ||
| ENST00000675042.1:c.226-1G>A | ENSP00000502082.1:n.226-1G>A | |
| ENST00000675229.1:c.400-1G>A | ENSP00000502154.1:n.400-1G>A | |
| ENST00000675378.1:c.400-1G>A | ENSP00000502535.1:n.400-1G>A | |
| ENST00000675452.1:n.649-1G>A | ||
| ENST00000675920.1:n.1008-1G>A | ||
| ENST00000676185.1:c.400-1G>A MANE Select | ENSP00000501614.1:n.400-1G>A | |
| ENST00000265038.9:c.400-1G>A | ENSP00000265038.5:n.400-1G>A | |
| ENST00000381118.7:c.*444-1G>A | ENSP00000370510.3:n.*444-1G>A | |
| ENST00000439176.5:c.226-1G>A | ENSP00000408344.1:n.226-1G>A | |
| ENST00000462279.5:n.245-1G>A | ||
| ENST00000484330.5:n.227-2366G>A | ||
| ENST00000495985.5:n.173-1G>A | ||
| ENST00000497892.5:n.443-1G>A | ||
| NM_000082.3:c.400-1G>A , LRG_466t1:c.400-1G>A | NP_000073.1:n.400-1G>A | |
| NM_001007233.2:c.226-1G>A | NP_001007234.1:n.226-1G>A | |
| NM_001007234.2:c.400-1G>A | NP_001007235.1:n.400-1G>A | |
| NM_001290285.1:c.23-1158G>A | NP_001277214.1:n.23-1158G>A | |
| NM_001007234.3:c.400-1G>A | NP_001007235.1:n.400-1G>A | |
| NM_000082.4:c.400-1G>A MANE Select | NP_000073.1:n.400-1G>A | |
| NM_001007233.3:c.226-1G>A | NP_001007234.1:n.226-1G>A | |
| NM_001290285.2:c.23-1158G>A | NP_001277214.1:n.23-1158G>A |