Linked Data
ClinVar Variation Id:
2444
ClinVar RCV Id:
RCV000002548
dbSNP Id:
rs104893972
ExAC:
6:31829856 A / C
gnomAD v2:
6-31829856-A-C
gnomAD v4:
6-31862079-A-C
PubMed:
PMID:8985184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31862079A>C , CM000668.2:g.31862079A>C | GRCh38 |
| NC_000006.11:g.31829856A>C , CM000668.1:g.31829856A>C | GRCh37 |
| NC_000006.10:g.31937835A>C | NCBI36 |
| NG_008201.1:g.5854T>G | |
| NG_023058.1:g.21968T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.272T>G MANE Select | ENSP00000364782.4:p.Leu91Arg | |
| ENST00000677054.1:n.401T>G | ||
| ENST00000677512.1:n.380T>G | ||
| ENST00000678869.1:n.380T>G | ||
| ENST00000375631.4:c.272T>G | ENSP00000364782.4:p.Leu91Arg | |
| ENST00000480384.1:n.301T>G | ||
| ENST00000491768.5:c.272T>G | ENSP00000433127.1:p.Leu91Arg | |
| ENST00000495807.1:n.292T>G | ||
| NM_000434.3:c.272T>G | NP_000425.1:p.Leu91Arg | |
| NM_000434.4:c.272T>G MANE Select | NP_000425.1:p.Leu91Arg |