Linked Data
ClinVar Variation Id:
2527641
ClinVar RCV Id:
RCV003242004
dbSNP Id:
rs751993443
gnomAD v4:
6-129465179-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129465179A>C , CM000668.2:g.129465179A>C | GRCh38 |
| NC_000006.11:g.129786324A>C , CM000668.1:g.129786324A>C | GRCh37 |
| NC_000006.10:g.129828017A>C | NCBI36 |
| NG_008678.1:g.587039A>C , LRG_409:g.587039A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7190A>C | ENSP00000481744.2:p.His2397Pro | |
| ENST00000618192.5:c.7454A>C | ENSP00000480802.2:p.His2485Pro | |
| ENST00000684985.1:n.821A>C | ||
| ENST00000688150.1:n.529A>C | ||
| ENST00000421865.3:c.7190A>C MANE Select | ENSP00000400365.2:p.His2397Pro | |
| ENST00000421865.2:c.7190A>C | ENSP00000400365.2:p.His2397Pro | |
| ENST00000617695.4:c.7190A>C | ENSP00000481744.1:p.His2397Pro | |
| ENST00000618192.4:c.7187A>C | ENSP00000480802.1:p.His2396Pro | |
| NM_000426.3:c.7190A>C , LRG_409t1:c.7190A>C | NP_000417.2:p.His2397Pro | |
| NM_001079823.1:c.7190A>C | NP_001073291.1:p.His2397Pro | |
| XM_005266981.2:c.7454A>C | XP_005267038.1:p.His2485Pro | |
| XM_005266982.2:c.7454A>C | XP_005267039.1:p.His2485Pro | |
| XM_011535820.1:c.7448A>C | XP_011534122.1:p.His2483Pro | |
| XM_005266981.3:c.7454A>C | XP_005267038.1:p.His2485Pro | |
| XM_005266982.3:c.7454A>C | XP_005267039.1:p.His2485Pro | |
| XM_011535820.2:c.7448A>C | XP_011534122.1:p.His2483Pro | |
| XM_017010851.2:c.7460A>C | XP_016866340.1:p.His2487Pro | |
| XM_017010852.1:c.5585A>C | XP_016866341.1:p.His1862Pro | |
| NM_000426.4:c.7190A>C MANE Select | NP_000417.3:p.His2397Pro | |
| NM_001079823.2:c.7190A>C | NP_001073291.2:p.His2397Pro |