Linked Data
ClinVar Variation Id:
430895
ClinVar RCV Id:
RCV000495976
dbSNP Id:
rs745463649
PubMed:
PMID:26385063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45032733C>A , CM000681.2:g.45032733C>A | GRCh38 |
| NC_000019.9:g.45535991C>A , CM000681.1:g.45535991C>A | GRCh37 |
| NC_000019.8:g.50227831C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.1182C>A | ENSP00000423287.1:p.Tyr394Ter | |
| ENST00000700471.1:c.871C>A | ENSP00000515004.1:n.871C>A | |
| ENST00000221452.13:c.1191C>A MANE Select | ENSP00000221452.7:p.Tyr397Ter | |
| ENST00000221452.12:c.1191C>A | ENSP00000221452.7:p.Tyr397Ter | |
| ENST00000505236.1:c.1182C>A | ENSP00000423287.1:p.Tyr394Ter | |
| ENST00000509229.1:n.310C>A | ||
| ENST00000589972.1:c.26C>A | ||
| ENST00000625761.2:c.1191C>A | ENSP00000485826.1:p.Tyr397Ter | |
| NM_006509.3:c.1191C>A | NP_006500.2:p.Tyr397Ter | |
| XM_005259127.2:c.1182C>A | XP_005259184.1:p.Tyr394Ter | |
| XM_005259128.2:c.992-1511C>A | XP_005259185.1:n.992-1511C>A | |
| XM_005259127.3:c.1182C>A | XP_005259184.1:p.Tyr394Ter | |
| NM_006509.4:c.1191C>A MANE Select | NP_006500.2:p.Tyr397Ter |