Linked Data
ClinVar Variation Id:
2454
ClinVar RCV Id:
RCV000002558
dbSNP Id:
rs104893979
gnomAD v2:
6-31827894-G-A
gnomAD v4:
6-31860117-G-A
PubMed:
PMID:11829139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860117G>A , CM000668.2:g.31860117G>A | GRCh38 |
| NC_000006.11:g.31827894G>A , CM000668.1:g.31827894G>A | GRCh37 |
| NC_000006.10:g.31935873G>A | NCBI36 |
| NG_008201.1:g.7816C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.946C>T MANE Select | ENSP00000364782.4:p.Pro316Ser | |
| ENST00000677054.1:n.2189C>T | ||
| ENST00000677512.1:n.1228C>T | ||
| ENST00000678869.1:n.1534C>T | ||
| ENST00000375631.4:c.946C>T | ENSP00000364782.4:p.Pro316Ser | |
| ENST00000480384.1:n.1149C>T | ||
| ENST00000491768.5:c.*56C>T | ENSP00000433127.1:n.*56C>T | |
| ENST00000495807.1:n.2254C>T | ||
| NM_000434.3:c.946C>T | NP_000425.1:p.Pro316Ser | |
| NM_000434.4:c.946C>T MANE Select | NP_000425.1:p.Pro316Ser |