Linked Data
ClinVar Variation Id:
3453
ClinVar RCV Id:
RCV000022410
dbSNP Id:
rs74315419
PubMed:
PMID:17054399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5302226C>T , CM000682.2:g.5302226C>T | GRCh38 |
| NC_000020.10:g.5282872C>T , CM000682.1:g.5282872C>T | GRCh37 |
| NC_000020.9:g.5230872C>T | NCBI36 |
| NG_008132.1:g.17144G>A | |
| NG_008132.2:g.17144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.969G>A | ENSP00000217270.3:p.Met323Ile | |
| ENST00000678059.1:c.861G>A | ENSP00000503366.1:p.Met287Ile | |
| ENST00000678254.1:c.969G>A MANE Select | ENSP00000504128.1:p.Met323Ile | |
| ENST00000217270.3:c.969G>A | ENSP00000217270.3:p.Met323Ile | |
| NM_144773.2:c.969G>A | NP_658986.1:p.Met323Ile | |
| XM_005260663.2:c.969G>A | XP_005260720.1:p.Met323Ile | |
| XM_011529159.1:c.861G>A | XP_011527461.1:p.Met287Ile | |
| NM_144773.3:c.969G>A | NP_658986.1:p.Met323Ile | |
| XM_017027646.1:c.969G>A | XP_016883135.1:p.Met323Ile | |
| NM_144773.4:c.969G>A MANE Select | NP_658986.1:p.Met323Ile |