Linked Data
ClinVar Variation Id:
194708
ClinVar RCV Id:
RCV000175138
dbSNP Id:
rs794727183
gnomAD v3:
7-87423905-C-T
gnomAD v4:
7-87423905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87423905C>T , CM000669.2:g.87423905C>T | GRCh38 |
| NC_000007.13:g.87053221C>T , CM000669.1:g.87053221C>T | GRCh37 |
| NC_000007.12:g.86891157C>T | NCBI36 |
| NG_007118.1:g.61528G>A | |
| NG_007118.2:g.61528G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359206.8:c.2211+1G>A | ENSP00000352135.3:n.2211+1G>A | |
| ENST00000643670.1:c.2228G>A | ENSP00000496629.1:n.2228G>A | |
| ENST00000649586.2:c.2211+1G>A MANE Select | ENSP00000496956.2:n.2211+1G>A | |
| ENST00000265723.8:c.2211+1G>A | ENSP00000265723.4:n.2211+1G>A | |
| ENST00000358400.7:c.2211+1G>A | ENSP00000351172.3:n.2211+1G>A | |
| ENST00000359206.7:c.2211+1G>A | ENSP00000352135.3:n.2211+1G>A | |
| ENST00000453593.5:c.2211+1G>A | ENSP00000392983.1:n.2211+1G>A | |
| ENST00000469770.1:n.416G>A | ||
| NM_000443.3:c.2211+1G>A | NP_000434.1:n.2211+1G>A | |
| NM_018849.2:c.2211+1G>A | NP_061337.1:n.2211+1G>A | |
| NM_018850.2:c.2211+1G>A | NP_061338.1:n.2211+1G>A | |
| XM_011516308.1:c.2211+1G>A | XP_011514610.1:n.2211+1G>A | |
| XM_011516309.1:c.2211+1G>A | XP_011514611.1:n.2211+1G>A | |
| XM_011516310.1:c.2211+1G>A | XP_011514612.1:n.2211+1G>A | |
| XM_011516311.1:c.2211+1G>A | XP_011514613.1:n.2211+1G>A | |
| XM_011516312.1:c.2211+1G>A | XP_011514614.1:n.2211+1G>A | |
| XM_011516313.1:c.2211+1G>A | XP_011514615.1:n.2211+1G>A | |
| XM_011516314.1:c.2232+1G>A | XP_011514616.1:n.2232+1G>A | |
| XM_011516315.1:c.1551+1G>A | XP_011514617.1:n.1551+1G>A | |
| XR_927478.1:n.2307+1G>A | ||
| XM_011516308.3:c.2481+1G>A | XP_011514610.3:n.2481+1G>A | |
| XM_011516309.3:c.2481+1G>A | XP_011514611.3:n.2481+1G>A | |
| XM_011516310.3:c.2481+1G>A | XP_011514612.3:n.2481+1G>A | |
| XM_011516311.3:c.2481+1G>A | XP_011514613.3:n.2481+1G>A | |
| XM_011516312.3:c.2481+1G>A | XP_011514614.3:n.2481+1G>A | |
| XM_011516313.3:c.2481+1G>A | XP_011514615.2:n.2481+1G>A | |
| XM_011516315.3:c.1551+1G>A | XP_011514617.2:n.1551+1G>A | |
| XM_017012323.2:c.2211+1G>A | XP_016867812.1:n.2211+1G>A | |
| XR_001744809.2:n.2982+1G>A | ||
| XR_001744810.2:n.2977+1G>A | ||
| NM_000443.4:c.2211+1G>A MANE Select | NP_000434.1:n.2211+1G>A | |
| NM_018849.3:c.2211+1G>A | NP_061337.1:n.2211+1G>A | |
| NM_018850.3:c.2211+1G>A | NP_061338.1:n.2211+1G>A |