Linked Data
ClinVar Variation Id:
2447
ClinVar RCV Id:
RCV000002551
dbSNP Id:
rs193922915
gnomAD v3:
6-31859879-A-G
gnomAD v4:
6-31859879-A-G
PubMed:
PMID:9054950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859879A>G , CM000668.2:g.31859879A>G | GRCh38 |
| NC_000006.11:g.31827656A>G , CM000668.1:g.31827656A>G | GRCh37 |
| NC_000006.10:g.31935635A>G | NCBI36 |
| NG_008201.1:g.8054T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1088T>C MANE Select | ENSP00000364782.4:p.Leu363Pro | |
| ENST00000677054.1:n.2427T>C | ||
| ENST00000677512.1:n.1365T>C | ||
| ENST00000678869.1:n.1676T>C | ||
| ENST00000375631.4:c.1088T>C | ENSP00000364782.4:p.Leu363Pro | |
| ENST00000480384.1:n.1387T>C | ||
| ENST00000491768.5:c.*198T>C | ENSP00000433127.1:n.*198T>C | |
| ENST00000495807.1:n.2396T>C | ||
| NM_000434.3:c.1088T>C | NP_000425.1:p.Leu363Pro | |
| NM_000434.4:c.1088T>C MANE Select | NP_000425.1:p.Leu363Pro |