Linked Data
ClinVar Variation Id:
1111622
ClinVar RCV Id:
RCV001438285
dbSNP Id:
rs202247792
gnomAD v2:
6-129807750-T-C
gnomAD v4:
6-129486605-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129486605T>C , CM000668.2:g.129486605T>C | GRCh38 |
| NC_000006.11:g.129807750T>C , CM000668.1:g.129807750T>C | GRCh37 |
| NC_000006.10:g.129849443T>C | NCBI36 |
| NG_008678.1:g.608465T>C , LRG_409:g.608465T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.7869T>C | ENSP00000481744.2:p.His2623= | |
| ENST00000618192.5:c.8145T>C | ENSP00000480802.2:p.His2715= | |
| ENST00000688198.1:n.859T>C | ||
| ENST00000421865.3:c.7881T>C MANE Select | ENSP00000400365.2:p.His2627= | |
| ENST00000421865.2:c.7881T>C | ENSP00000400365.2:p.His2627= | |
| ENST00000617695.4:c.7869T>C | ENSP00000481744.1:p.His2623= | |
| ENST00000618192.4:c.7878T>C | ENSP00000480802.1:p.His2626= | |
| NM_000426.3:c.7881T>C , LRG_409t1:c.7881T>C | NP_000417.2:p.His2627= | |
| NM_001079823.1:c.7869T>C | NP_001073291.1:p.His2623= | |
| XM_005266981.2:c.8145T>C | XP_005267038.1:p.His2715= | |
| XM_005266982.2:c.8133T>C | XP_005267039.1:p.His2711= | |
| XM_011535820.1:c.8139T>C | XP_011534122.1:p.His2713= | |
| XM_005266981.3:c.8145T>C | XP_005267038.1:p.His2715= | |
| XM_005266982.3:c.8133T>C | XP_005267039.1:p.His2711= | |
| XM_011535820.2:c.8139T>C | XP_011534122.1:p.His2713= | |
| XM_017010851.2:c.8151T>C | XP_016866340.1:p.His2717= | |
| XM_017010852.1:c.6276T>C | XP_016866341.1:p.His2092= | |
| NM_000426.4:c.7881T>C MANE Select | NP_000417.3:p.His2627= | |
| NM_001079823.2:c.7869T>C | NP_001073291.2:p.His2623= |