Linked Data
ClinVar Variation Id:
312253
ClinVar RCV Id:
RCV000314842
dbSNP Id:
rs10397
gnomAD v2:
13-48516845-G-C
gnomAD v3:
13-47942710-G-C
gnomAD v4:
13-47942710-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47942710G>C , CM000675.2:g.47942710G>C | GRCh38 |
| NC_000013.10:g.48516845G>C , CM000675.1:g.48516845G>C | GRCh37 |
| NC_000013.9:g.47414846G>C | NCBI36 |
| NG_008241.1:g.63618C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643023.1:c.*661C>G | ENSP00000495664.1:n.*661C>G | |
| ENST00000643584.1:c.*26+635C>G | ENSP00000494987.1:n.*26+635C>G | |
| ENST00000646804.1:c.*661C>G | ENSP00000493977.1:n.*661C>G | |
| ENST00000646932.1:c.*661C>G MANE Select | ENSP00000494360.1:n.*661C>G | |
| ENST00000378654.8:c.*661C>G | ENSP00000367923.3:n.*661C>G | |
| ENST00000481279.2:n.310+635C>G | ||
| ENST00000493152.6:c.269+635C>G | ENSP00000489055.1:n.269+635C>G | |
| NM_003850.2:c.*661C>G | NP_003841.1:n.*661C>G | |
| XM_011535292.1:c.*661C>G | XP_011533594.1:n.*661C>G | |
| XM_011535293.1:c.*661C>G | XP_011533595.1:n.*661C>G | |
| NM_003850.3:c.*661C>G MANE Select | NP_003841.1:n.*661C>G |