Linked Data
ClinVar Variation Id:
312258
ClinVar RCV Id:
RCV000261161
dbSNP Id:
rs776688171
gnomAD v2:
13-48517175-G-T
gnomAD v3:
13-47943040-G-T
gnomAD v4:
13-47943040-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47943040G>T , CM000675.2:g.47943040G>T | GRCh38 |
| NC_000013.10:g.48517175G>T , CM000675.1:g.48517175G>T | GRCh37 |
| NC_000013.9:g.47415176G>T | NCBI36 |
| NG_008241.1:g.63288C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.*331C>A | ENSP00000495674.1:n.*331C>A | |
| ENST00000643023.1:c.*331C>A | ENSP00000495664.1:n.*331C>A | |
| ENST00000643584.1:c.*26+305C>A | ENSP00000494987.1:n.*26+305C>A | |
| ENST00000646804.1:c.*331C>A | ENSP00000493977.1:n.*331C>A | |
| ENST00000646932.1:c.*331C>A MANE Select | ENSP00000494360.1:n.*331C>A | |
| ENST00000647361.1:c.*1516C>A | ENSP00000494607.1:n.*1516C>A | |
| ENST00000378654.8:c.*331C>A | ENSP00000367923.3:n.*331C>A | |
| ENST00000481279.2:n.310+305C>A | ||
| ENST00000493152.6:c.269+305C>A | ENSP00000489055.1:n.269+305C>A | |
| NM_003850.2:c.*331C>A | NP_003841.1:n.*331C>A | |
| XM_011535292.1:c.*331C>A | XP_011533594.1:n.*331C>A | |
| XM_011535293.1:c.*331C>A | XP_011533595.1:n.*331C>A | |
| NM_003850.3:c.*331C>A MANE Select | NP_003841.1:n.*331C>A |