Linked Data
ClinVar Variation Id:
2314038
ClinVar RCV Id:
RCV004160969
dbSNP Id:
rs1178333682
gnomAD v2:
7-158827322-G-A
gnomAD v4:
7-159034631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.159034631G>A , CM000669.2:g.159034631G>A | GRCh38 |
| NC_000007.13:g.158827322G>A , CM000669.1:g.158827322G>A | GRCh37 |
| NC_000007.12:g.158520083G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262178.7:c.829C>T MANE Select | ENSP00000262178.2:p.His277Tyr | |
| ENST00000262178.6:c.829C>T | ENSP00000262178.2:p.His277Tyr | |
| ENST00000377633.7:c.781C>T | ENSP00000366860.3:p.His261Tyr | |
| ENST00000402066.5:c.1252C>T | ENSP00000384497.1:p.His418Tyr | |
| NM_001304522.1:c.589C>T | NP_001291451.1:p.His197Tyr | |
| NM_001308259.1:c.781C>T | NP_001295188.1:p.His261Tyr | |
| NM_003382.4:c.829C>T | NP_003373.2:p.His277Tyr | |
| NR_130758.1:n.1015C>T | ||
| XM_005249561.2:c.904C>T | XP_005249618.1:p.His302Tyr | |
| XM_006716107.1:c.829C>T | XP_006716170.1:p.His277Tyr | |
| XM_006716108.2:c.640C>T | XP_006716171.1:p.His214Tyr | |
| XM_011516550.1:c.781C>T | XP_011514852.1:p.His261Tyr | |
| XM_011516552.1:c.415C>T | XP_011514854.1:p.His139Tyr | |
| XR_242047.2:n.1224C>T | ||
| XM_005249561.3:c.904C>T | XP_005249618.1:p.His302Tyr | |
| XM_006716107.2:c.829C>T | XP_006716170.1:p.His277Tyr | |
| XM_006716108.3:c.640C>T | XP_006716171.1:p.His214Tyr | |
| XM_011516550.2:c.781C>T | XP_011514852.1:p.His261Tyr | |
| XM_017012580.1:c.415C>T | XP_016868069.1:p.His139Tyr | |
| XM_024446914.1:c.904C>T | XP_024302682.1:p.His302Tyr | |
| XM_024446915.1:c.904C>T | XP_024302683.1:p.His302Tyr | |
| XM_024446916.1:c.829C>T | XP_024302684.1:p.His277Tyr | |
| XM_024446917.1:c.640C>T | XP_024302685.1:p.His214Tyr | |
| XM_024446918.1:c.415C>T | XP_024302686.1:p.His139Tyr | |
| NM_003382.5:c.829C>T MANE Select | NP_003373.2:p.His277Tyr | |
| NM_001304522.2:c.589C>T | NP_001291451.1:p.His197Tyr | |
| NR_130758.2:n.925C>T |