Linked Data
ClinVar Variation Id:
2974260
ClinVar RCV Id:
RCV003835898
dbSNP Id:
rs751342846
ExAC:
14:105207569 A / C
gnomAD v2:
14-105207569-A-C
gnomAD v4:
14-104741232-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104741232A>C , CM000676.2:g.104741232A>C | GRCh38 |
| NC_000014.8:g.105207569A>C , CM000676.1:g.105207569A>C | GRCh37 |
| NC_000014.7:g.104278614A>C | NCBI36 |
| NG_051175.1:g.22036A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710323.1:c.782A>C | ENSP00000518203.1:p.Asp261Ala | |
| ENST00000330877.7:c.782A>C MANE Select | ENSP00000331260.2:p.Asp261Ala | |
| ENST00000330877.6:c.782A>C | ENSP00000331260.2:p.Asp261Ala | |
| ENST00000332972.9:c.911A>C | ENSP00000333019.5:p.Asp304Ala | |
| ENST00000553540.5:c.894A>C | ENSP00000450759.1:n.894A>C | |
| ENST00000555486.5:c.847A>C | ENSP00000473778.1:n.847A>C | |
| ENST00000557582.5:n.1703A>C | ||
| NM_152328.3:c.782A>C | NP_689541.1:p.Asp261Ala | |
| NM_199165.1:c.911A>C | NP_954634.1:p.Asp304Ala | |
| XM_006720026.2:c.785A>C | XP_006720089.1:p.Asp262Ala | |
| XM_011536412.1:c.914A>C | XP_011534714.1:p.Asp305Ala | |
| XM_011536413.1:c.599A>C | XP_011534715.1:p.Asp200Ala | |
| XM_011536414.1:c.596A>C | XP_011534716.1:p.Asp199Ala | |
| XM_011536415.1:c.167A>C | XP_011534717.1:p.Asp56Ala | |
| NM_001320424.1:c.167A>C | NP_001307353.1:p.Asp56Ala | |
| NM_152328.4:c.782A>C | NP_689541.1:p.Asp261Ala | |
| NM_199165.2:c.911A>C | NP_954634.1:p.Asp304Ala | |
| XM_006720026.3:c.785A>C | XP_006720089.1:p.Asp262Ala | |
| XM_011536412.2:c.914A>C | XP_011534714.1:p.Asp305Ala | |
| XR_001750917.1:n.477T>G | ||
| NM_152328.5:c.782A>C MANE Select | NP_689541.1:p.Asp261Ala |