Linked Data
ClinVar Variation Id:
2180929
ClinVar RCV Id:
RCV002603070
dbSNP Id:
rs369937650
ExAC:
1:169454805 C / T
gnomAD v2:
1-169454805-C-T
gnomAD v3:
1-169485567-C-T
gnomAD v4:
1-169485567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485567C>T , CM000663.2:g.169485567C>T | GRCh38 |
| NC_000001.10:g.169454805C>T , CM000663.1:g.169454805C>T | GRCh37 |
| NC_000001.9:g.167721429C>T | NCBI36 |
| NG_008255.1:g.5404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.200G>A MANE Select | ENSP00000236137.5:p.Arg67Lys | |
| ENST00000646596.1:c.200G>A | ENSP00000494404.1:p.Arg67Lys | |
| ENST00000236137.9:c.200G>A | ENSP00000236137.5:p.Arg67Lys | |
| ENST00000367804.4:c.200G>A | ENSP00000356778.3:p.Arg67Lys | |
| NM_006996.2:c.200G>A | NP_008927.1:p.Arg67Lys | |
| XM_011509076.1:c.12+486G>A | XP_011507378.1:n.12+486G>A | |
| XM_011509077.1:c.200G>A | XP_011507379.1:p.Arg67Lys | |
| NM_001319667.1:c.200G>A | NP_001306596.1:p.Arg67Lys | |
| NM_006996.3:c.200G>A MANE Select | NP_008927.1:p.Arg67Lys |