Linked Data
ClinVar Variation Id:
328638
ClinVar RCV Id:
RCV000335779
dbSNP Id:
rs79003009
gnomAD v2:
19-19303284-C-T
gnomAD v3:
19-19192475-C-T
gnomAD v4:
19-19192475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19192475C>T , CM000681.2:g.19192475C>T | GRCh38 |
| NC_000019.9:g.19303284C>T , CM000681.1:g.19303284C>T | GRCh37 |
| NC_000019.8:g.19164284C>T | NCBI36 |
| NG_007432.1:g.5277C>T , LRG_102:g.5277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303088.9:c.-229C>T (RFXANK) MANE Select | ENSP00000305071.2:n.-229C>T | |
| ENST00000303088.8:c.-229C>T (RFXANK) | ENSP00000305071.2:n.-229C>T | |
| ENST00000421262.7:c.-360C>T (RFXANK) | ENSP00000393159.3:n.-360C>T | |
| ENST00000456252.7:c.-229C>T (RFXANK) | ENSP00000409138.2:n.-229C>T | |
| ENST00000462498.1:n.117G>A (BORCS8) | ||
| ENST00000462790.7:c.-358G>A (BORCS8) | ENSP00000425864.1:n.-358G>A | |
| ENST00000477565.3:c.-358G>A (BORCS8) | ENSP00000424833.1:n.-358G>A | |
| ENST00000494489.6:n.59+55G>A (BORCS8) | ||
| ENST00000593273.5:c.-229C>T (RFXANK) | ENSP00000466913.1:n.-229C>T | |
| NM_001145783.1:c.-358G>A (BORCS8) | NP_001139255.1:n.-358G>A | |
| NM_001145784.1:c.-358G>A (BORCS8) | NP_001139256.1:n.-358G>A | |
| NM_001278727.1:c.-229C>T (RFXANK) | NP_001265656.1:n.-229C>T | |
| NM_003721.3:c.-229C>T (RFXANK) | NP_003712.1:n.-229C>T | |
| NM_005919.3:c.-611G>A (BORCS8-MEF2B) | NP_005910.1:n.-611G>A | |
| NM_134440.2:c.-229C>T (RFXANK) | NP_604389.1:n.-229C>T | |
| NR_027307.1:n.117G>A (BORCS8-MEF2B) | ||
| NR_027308.1:n.117G>A (BORCS8-MEF2B) | ||
| XM_005260136.3:c.-229C>T (RFXANK) | XP_005260193.1:n.-229C>T | |
| XM_005260136.5:c.-229C>T (RFXANK) | XP_005260193.1:n.-229C>T | |
| NM_003721.4:c.-229C>T (RFXANK) MANE Select | NP_003712.1:n.-229C>T | |
| NM_001370235.1:c.-229C>T (RFXANK) | NP_001357164.1:n.-229C>T | |
| NM_001278727.2:c.-229C>T (RFXANK) | NP_001265656.1:n.-229C>T | |
| NM_134440.3:c.-229C>T (RFXANK) | NP_604389.1:n.-229C>T |