Linked Data
ClinVar Variation Id:
420868
ClinVar RCV Id:
RCV000479796
dbSNP Id:
rs1045409136
gnomAD v4:
1-235489269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235489269C>T , CM000663.2:g.235489269C>T | GRCh38 |
| NC_000001.10:g.235652574C>T , CM000663.1:g.235652574C>T | GRCh37 |
| NC_000001.9:g.233719197C>T | NCBI36 |
| NG_033219.2:g.20213G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366600.8:c.261-1G>A MANE Select | ENSP00000355559.3:n.261-1G>A | |
| ENST00000675193.1:c.384-1G>A | ENSP00000502069.1:n.384-1G>A | |
| ENST00000675555.1:c.39-1G>A | ENSP00000501896.1:n.39-1G>A | |
| ENST00000676288.1:c.384-1G>A | ENSP00000502392.1:n.384-1G>A | |
| ENST00000313984.3:c.384-1G>A | ENSP00000315678.3:n.384-1G>A | |
| ENST00000366600.7:c.261-1G>A | ENSP00000355559.3:n.261-1G>A | |
| ENST00000494378.1:n.434-4754G>A | ||
| ENST00000612859.4:c.261-4754G>A | ENSP00000481548.1:n.261-4754G>A | |
| NM_001277155.2:c.384-1G>A | NP_001264084.1:n.384-1G>A | |
| NM_152490.4:c.261-1G>A | NP_689703.1:n.261-1G>A | |
| XM_005273071.3:c.261-1G>A | XP_005273128.1:n.261-1G>A | |
| XM_006711749.2:c.261-1G>A | XP_006711812.1:n.261-1G>A | |
| XM_011544096.1:c.261-1G>A | XP_011542398.1:n.261-1G>A | |
| XM_011544097.1:c.261-1G>A | XP_011542399.1:n.261-1G>A | |
| XM_006711749.3:c.261-1G>A | XP_006711812.1:n.261-1G>A | |
| XM_017000394.1:c.384-1G>A | XP_016855883.1:n.384-1G>A | |
| XM_017000395.1:c.384-1G>A | XP_016855884.1:n.384-1G>A | |
| XR_001736987.1:n.549-1G>A | ||
| XR_001736988.1:n.549-1G>A | ||
| XR_001736989.1:n.549-1G>A | ||
| XR_001736990.1:n.432-1G>A | ||
| NM_152490.5:c.261-1G>A MANE Select | NP_689703.1:n.261-1G>A | |
| NM_001277155.3:c.384-1G>A | NP_001264084.1:n.384-1G>A |