Linked Data
ClinVar Variation Id:
766957
ClinVar RCV Id:
RCV000945565
dbSNP Id:
rs200050342
ExAC:
5:126755743 C / T
gnomAD v2:
5-126755743-C-T
gnomAD v3:
5-127420051-C-T
gnomAD v4:
5-127420051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127420051C>T , CM000667.2:g.127420051C>T | GRCh38 |
| NC_000005.9:g.126755743C>T , CM000667.1:g.126755743C>T | GRCh37 |
| NC_000005.8:g.126783642C>T | NCBI36 |
| NG_032072.1:g.134288C>T | |
| NG_032072.2:g.134288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.1434C>T MANE Select | ENSP00000423354.2:p.His478= | |
| ENST00000274473.6:c.1434C>T | ENSP00000274473.6:p.His478= | |
| ENST00000418761.6:c.1434C>T | ENSP00000416284.2:p.His478= | |
| ENST00000503335.6:c.1434C>T | ENSP00000423354.2:p.His478= | |
| ENST00000508365.5:c.1434C>T | ENSP00000423195.1:p.His478= | |
| NM_001256545.1:c.1434C>T | NP_001243474.1:p.His478= | |
| NM_001308119.1:c.1434C>T | NP_001295048.1:p.His478= | |
| NM_001308121.1:c.1434C>T | NP_001295050.1:p.His478= | |
| NM_032446.2:c.1434C>T | NP_115822.1:p.His478= | |
| XM_011543692.1:c.1434C>T | XP_011541994.1:p.His478= | |
| XM_011543693.1:c.1434C>T | XP_011541995.1:p.His478= | |
| XM_011543694.1:c.1434C>T | XP_011541996.1:p.His478= | |
| XM_017009987.1:c.1599C>T | XP_016865476.1:p.His533= | |
| XM_017009988.1:c.294C>T | XP_016865477.1:p.His98= | |
| NM_001256545.2:c.1434C>T MANE Select | NP_001243474.1:p.His478= | |
| NM_032446.3:c.1434C>T | NP_115822.1:p.His478= | |
| NM_001308119.2:c.1434C>T | NP_001295048.1:p.His478= | |
| NM_001308121.2:c.1434C>T | NP_001295050.1:p.His478= |