Linked Data
ClinVar Variation Id:
2625
ClinVar RCV Id:
RCV000002743
dbSNP Id:
rs119456965
ExAC:
5:138386649 G / A
gnomAD v2:
5-138386649-G-A
gnomAD v3:
5-139050960-G-A
gnomAD v4:
5-139050960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139050960G>A , CM000667.2:g.139050960G>A | GRCh38 |
| NC_000005.9:g.138386649G>A , CM000667.1:g.138386649G>A | GRCh37 |
| NC_000005.8:g.138414548G>A | NCBI36 |
| NG_008112.1:g.152417C>T | |
| NG_008112.2:g.152417C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394817.7:c.331C>T MANE Select | ENSP00000378294.2:p.Arg111Ter | |
| ENST00000265195.9:c.331C>T | ENSP00000265195.5:p.Arg111Ter | |
| ENST00000394817.6:c.331C>T | ENSP00000378294.2:p.Arg111Ter | |
| ENST00000503732.1:n.158C>T | ||
| ENST00000505830.5:c.361C>T | ENSP00000426460.1:p.Arg121Ter | |
| ENST00000507002.5:c.361C>T | ENSP00000421890.1:p.Arg121Ter | |
| ENST00000508639.5:c.331C>T | ENSP00000427371.1:p.Arg111Ter | |
| ENST00000509534.5:c.352C>T | ENSP00000426858.1:p.Arg118Ter | |
| ENST00000513453.5:c.331C>T | ENSP00000424014.1:p.Arg111Ter | |
| NM_001037633.1:c.331C>T | NP_001032722.1:p.Arg111Ter | |
| NM_022464.4:c.331C>T | NP_071909.1:p.Arg111Ter | |
| XM_011543570.1:c.361C>T | XP_011541872.1:p.Arg121Ter | |
| XM_011543570.2:c.361C>T | XP_011541872.1:p.Arg121Ter | |
| XM_024446164.1:c.331C>T | XP_024301932.1:p.Arg111Ter | |
| NM_022464.5:c.331C>T MANE Select | NP_071909.1:p.Arg111Ter | |
| NM_001037633.2:c.331C>T | NP_001032722.1:p.Arg111Ter |