Linked Data
ClinVar Variation Id:
2458
dbSNP Id:
rs104893986
gnomAD v4:
6-31862708-C-T
PubMed:
PMID:14695530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31862708C>T , CM000668.2:g.31862708C>T | GRCh38 |
| NC_000006.11:g.31830485C>T , CM000668.1:g.31830485C>T | GRCh37 |
| NC_000006.10:g.31938464C>T | NCBI36 |
| NG_008201.1:g.5225G>A | |
| NG_023058.1:g.21339G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.69G>A MANE Select | ENSP00000364782.4:p.Trp23Ter | |
| ENST00000677054.1:n.198G>A | ||
| ENST00000677512.1:n.177G>A | ||
| ENST00000678869.1:n.177G>A | ||
| ENST00000375631.4:c.69G>A | ENSP00000364782.4:p.Trp23Ter | |
| ENST00000480384.1:n.98G>A | ||
| ENST00000491768.5:c.69G>A | ENSP00000433127.1:p.Trp23Ter | |
| ENST00000495807.1:n.89G>A | ||
| NM_000434.3:c.69G>A | NP_000425.1:p.Trp23Ter | |
| NM_000434.4:c.69G>A MANE Select | NP_000425.1:p.Trp23Ter |