Linked Data
ClinVar Variation Id:
3090151
ClinVar RCV Id:
RCV004380570
dbSNP Id:
rs1395772766
gnomAD v4:
21-38392430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38392430G>A , CM000683.2:g.38392430G>A | GRCh38 |
| NC_000021.8:g.39764352G>A , CM000683.1:g.39764352G>A | GRCh37 |
| NC_000021.7:g.38686222G>A | NCBI36 |
| NG_029732.1:g.274353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288319.12:c.760C>T MANE Select | ENSP00000288319.7:p.Pro254Ser | |
| ENST00000288319.11:c.760C>T | ENSP00000288319.7:p.Pro254Ser | |
| ENST00000398897.5:c.412C>T | ENSP00000381871.1:p.Pro138Ser | |
| ENST00000398905.5:c.688C>T | ENSP00000381877.1:p.Pro230Ser | |
| ENST00000398907.5:c.746-715C>T | ENSP00000381879.1:n.746-715C>T | |
| ENST00000398910.5:c.767-715C>T | ENSP00000381881.1:n.767-715C>T | |
| ENST00000398911.5:c.709C>T | ENSP00000381882.1:p.Pro237Ser | |
| ENST00000398919.6:c.781C>T | ENSP00000381891.2:p.Pro261Ser | |
| ENST00000417133.6:c.781C>T | ENSP00000414150.2:p.Pro261Ser | |
| ENST00000442448.5:c.709C>T | ENSP00000394694.1:p.Pro237Ser | |
| ENST00000453032.6:c.484C>T | ENSP00000396268.2:p.Pro162Ser | |
| ENST00000481609.5:n.859C>T | ||
| NM_001136154.1:c.781C>T | NP_001129626.1:p.Pro261Ser | |
| NM_001136155.1:c.484C>T | NP_001129627.1:p.Pro162Ser | |
| NM_001243428.1:c.781C>T | NP_001230357.1:p.Pro261Ser | |
| NM_001243429.1:c.412C>T | NP_001230358.1:p.Pro138Ser | |
| NM_001243432.2:c.781C>T | NP_001230361.1:p.Pro261Ser | |
| NM_004449.4:c.709C>T | NP_004440.1:p.Pro237Ser | |
| NM_182918.3:c.760C>T | NP_891548.1:p.Pro254Ser | |
| XM_011529486.1:c.628C>T | XP_011527788.1:p.Pro210Ser | |
| NM_001331025.1:c.688C>T | NP_001317954.1:p.Pro230Ser | |
| NM_182918.4:c.760C>T MANE Select | NP_891548.1:p.Pro254Ser | |
| NM_001331025.2:c.688C>T | NP_001317954.1:p.Pro230Ser |