Linked Data
ClinVar Variation Id:
4347
ClinVar RCV Id:
RCV000004595
dbSNP Id:
rs119476047
PubMed:
PMID:11685207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50614425C>A , CM000676.2:g.50614425C>A | GRCh38 |
| NC_000014.8:g.51081143C>A , CM000676.1:g.51081143C>A | GRCh37 |
| NC_000014.7:g.50150893C>A | NCBI36 |
| NG_009028.1:g.86344C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.776C>A | ENSP00000450989.2:p.Ser259Tyr | |
| ENST00000556478.3:c.776C>A | ENSP00000501428.2:p.Ser259Tyr | |
| ENST00000682037.1:c.776C>A | ENSP00000508289.1:p.Ser259Tyr | |
| ENST00000682219.1:n.2114C>A | ||
| ENST00000682487.1:n.1110C>A | ||
| ENST00000683037.1:n.697C>A | ||
| ENST00000683330.1:n.1110C>A | ||
| ENST00000683837.1:n.1110C>A | ||
| ENST00000358385.12:c.776C>A MANE Select | ENSP00000351155.7:p.Ser259Tyr | |
| ENST00000674288.1:c.*2068C>A | ENSP00000501522.1:n.*2068C>A | |
| ENST00000358385.10:c.776C>A | ENSP00000351155.6:p.Ser259Tyr | |
| ENST00000441560.6:c.776C>A | ENSP00000413675.2:p.Ser259Tyr | |
| ENST00000555266.1:c.47C>A | ENSP00000450897.1:p.Ser16Tyr | |
| NM_001127713.1:c.776C>A | NP_001121185.1:p.Ser259Tyr | |
| NM_015915.4:c.776C>A | NP_056999.2:p.Ser259Tyr | |
| NM_181598.3:c.776C>A | NP_853629.2:p.Ser259Tyr | |
| NM_015915.5:c.776C>A MANE Select | NP_056999.2:p.Ser259Tyr | |
| NM_181598.4:c.776C>A | NP_853629.2:p.Ser259Tyr |