Linked Data
ClinVar Variation Id:
88839
ClinVar RCV Id:
RCV000074427
dbSNP Id:
rs483352912
PubMed:
PMID:23666529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58679193G>A , CM000677.2:g.58679193G>A | GRCh38 |
| NC_000015.9:g.58971392G>A , CM000677.1:g.58971392G>A | GRCh37 |
| NC_000015.8:g.56758684G>A | NCBI36 |
| NG_033876.1:g.75786C>T | |
| NG_033876.2:g.75515C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260408.8:c.415C>T MANE Select | ENSP00000260408.3:p.Pro139Ser | |
| ENST00000260408.7:c.415C>T | ENSP00000260408.3:p.Pro139Ser | |
| ENST00000396136.6:c.90C>T | ||
| ENST00000402627.5:c.56-38363C>T | ENSP00000386056.1:n.56-38363C>T | |
| ENST00000439637.5:c.325+3003C>T | ENSP00000391930.1:n.325+3003C>T | |
| ENST00000497846.5:n.532C>T | ||
| ENST00000558004.1:c.332-13996C>T | ENSP00000452704.1:n.332-13996C>T | |
| ENST00000558733.5:n.651C>T | ||
| ENST00000559053.1:c.56-38363C>T | ENSP00000453952.1:n.56-38363C>T | |
| ENST00000560608.5:n.553C>T | ||
| ENST00000561288.1:c.55+70287C>T | ENSP00000452639.1:n.55+70287C>T | |
| NM_001110.3:c.415C>T | NP_001101.1:p.Pro139Ser | |
| XM_005254117.2:c.415C>T | XP_005254174.1:p.Pro139Ser | |
| NM_001320570.1:c.415C>T | NP_001307499.1:p.Pro139Ser | |
| XM_024449818.1:c.193C>T | XP_024305586.1:p.Pro65Ser | |
| NM_001110.4:c.415C>T MANE Select | NP_001101.1:p.Pro139Ser | |
| NM_001320570.2:c.415C>T | NP_001307499.1:p.Pro139Ser |