Linked Data
ClinVar Variation Id:
2443
ClinVar RCV Id:
RCV000002547
dbSNP Id:
rs104893971
PubMed:
PMID:8985184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859838C>A , CM000668.2:g.31859838C>A | GRCh38 |
| NC_000006.11:g.31827615C>A , CM000668.1:g.31827615C>A | GRCh37 |
| NC_000006.10:g.31935594C>A | NCBI36 |
| NG_008201.1:g.8095G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1129G>T MANE Select | ENSP00000364782.4:p.Glu377Ter | |
| ENST00000677054.1:n.2468G>T | ||
| ENST00000677512.1:n.1406G>T | ||
| ENST00000678869.1:n.1717G>T | ||
| ENST00000375631.4:c.1129G>T | ENSP00000364782.4:p.Glu377Ter | |
| ENST00000480384.1:n.1428G>T | ||
| ENST00000491768.5:c.*239G>T | ENSP00000433127.1:n.*239G>T | |
| ENST00000495807.1:n.2437G>T | ||
| NM_000434.3:c.1129G>T | NP_000425.1:p.Glu377Ter | |
| NM_000434.4:c.1129G>T MANE Select | NP_000425.1:p.Glu377Ter |