Linked Data
ClinVar Variation Id:
312257
ClinVar RCV Id:
RCV000355815
dbSNP Id:
rs886050258
gnomAD v4:
13-47943022-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47943022G>C , CM000675.2:g.47943022G>C | GRCh38 |
| NC_000013.10:g.48517157G>C , CM000675.1:g.48517157G>C | GRCh37 |
| NC_000013.9:g.47415158G>C | NCBI36 |
| NG_008241.1:g.63306C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.*349C>G | ENSP00000495674.1:n.*349C>G | |
| ENST00000643023.1:c.*349C>G | ENSP00000495664.1:n.*349C>G | |
| ENST00000643584.1:c.*26+323C>G | ENSP00000494987.1:n.*26+323C>G | |
| ENST00000646804.1:c.*349C>G | ENSP00000493977.1:n.*349C>G | |
| ENST00000646932.1:c.*349C>G MANE Select | ENSP00000494360.1:n.*349C>G | |
| ENST00000647361.1:c.*1534C>G | ENSP00000494607.1:n.*1534C>G | |
| ENST00000378654.8:c.*349C>G | ENSP00000367923.3:n.*349C>G | |
| ENST00000481279.2:n.310+323C>G | ||
| ENST00000493152.6:c.269+323C>G | ENSP00000489055.1:n.269+323C>G | |
| NM_003850.2:c.*349C>G | NP_003841.1:n.*349C>G | |
| XM_011535292.1:c.*349C>G | XP_011533594.1:n.*349C>G | |
| XM_011535293.1:c.*349C>G | XP_011533595.1:n.*349C>G | |
| NM_003850.3:c.*349C>G MANE Select | NP_003841.1:n.*349C>G |