Linked Data
ClinVar Variation Id:
1657315
ClinVar RCV Id:
RCV002169255
dbSNP Id:
rs1180742144
gnomAD v2:
16-68853276-T-C
gnomAD v4:
16-68819373-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819373T>C , CM000678.2:g.68819373T>C | GRCh38 |
| NC_000016.9:g.68853276T>C , CM000678.1:g.68853276T>C | GRCh37 |
| NC_000016.8:g.67410777T>C | NCBI36 |
| NG_008021.1:g.87082T>C , LRG_301:g.87082T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1659T>C MANE Select | ENSP00000261769.4:p.Phe553= | |
| ENST00000261769.9:c.1659T>C | ENSP00000261769.4:p.Phe553= | |
| ENST00000422392.6:c.1476T>C | ENSP00000414946.2:p.Phe492= | |
| ENST00000562836.5:n.1730T>C | ||
| ENST00000566510.5:c.*325T>C | ENSP00000458139.1:n.*325T>C | |
| ENST00000566612.5:c.1566-2628T>C | ENSP00000454782.1:n.1566-2628T>C | |
| ENST00000611625.4:c.1722T>C | ENSP00000481063.1:p.Phe574= | |
| ENST00000612417.4:c.1659T>C | ENSP00000478360.1:p.Phe553= | |
| ENST00000621016.4:c.1659T>C | ENSP00000480664.1:p.Phe553= | |
| NM_004360.3:c.1659T>C , LRG_301t1:c.1659T>C | NP_004351.1:p.Phe553= | |
| XM_011523488.1:c.924T>C | XP_011521790.1:p.Phe308= | |
| XM_011523489.1:c.924T>C | XP_011521791.1:p.Phe308= | |
| NM_001317184.1:c.1476T>C | NP_001304113.1:p.Phe492= | |
| NM_001317185.1:c.111T>C | NP_001304114.1:p.Phe37= | |
| NM_001317186.1:c.-254-2628T>C | NP_001304115.1:n.-254-2628T>C | |
| NM_004360.4:c.1659T>C | NP_004351.1:p.Phe553= | |
| NM_004360.5:c.1659T>C MANE Select | NP_004351.1:p.Phe553= | |
| NM_001317184.2:c.1476T>C | NP_001304113.1:p.Phe492= | |
| NM_001317185.2:c.111T>C | NP_001304114.1:p.Phe37= | |
| NM_001317186.2:c.-254-2628T>C | NP_001304115.1:n.-254-2628T>C |