Linked Data
ClinVar Variation Id:
2831934
ClinVar RCV Id:
RCV003749950
gnomAD v4:
5-161410994-G-A
MyVariant Identifiers:
chr5:g.160838000G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161410994G>A , CM000667.2:g.161410994G>A | GRCh38 |
| NC_000005.9:g.160838000G>A , CM000667.1:g.160838000G>A | GRCh37 |
| NC_000005.8:g.160770578G>A | NCBI36 |
| NG_047050.1:g.142131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.522C>T | ENSP00000274547.2:p.Cys174= | |
| ENST00000393959.6:c.522C>T MANE Select | ENSP00000377531.1:p.Cys174= | |
| ENST00000674514.1:n.604C>T | ||
| ENST00000675081.1:c.270C>T | ENSP00000502207.1:p.Cys90= | |
| ENST00000675303.1:c.522C>T | ENSP00000502748.1:p.Cys174= | |
| ENST00000675381.1:c.270C>T | ENSP00000501968.1:p.Cys90= | |
| ENST00000675773.1:c.522C>T | ENSP00000502701.1:p.Cys174= | |
| ENST00000274547.6:c.522C>T | ENSP00000274547.2:p.Cys174= | |
| ENST00000353437.10:c.522C>T | ENSP00000274546.6:p.Cys174= | |
| ENST00000393959.5:c.522C>T | ENSP00000377531.1:p.Cys174= | |
| ENST00000517547.5:c.42C>T | ENSP00000429750.1:p.Cys14= | |
| ENST00000517901.5:c.333C>T | ENSP00000430532.1:p.Cys111= | |
| ENST00000520240.5:c.522C>T | ENSP00000429320.1:p.Cys174= | |
| ENST00000612710.1:c.333C>T | ENSP00000480066.1:p.Cys111= | |
| NM_000813.2:c.522C>T | NP_000804.1:p.Cys174= | |
| NM_021911.2:c.522C>T | NP_068711.1:p.Cys174= | |
| NM_000813.3:c.522C>T | NP_000804.1:p.Cys174= | |
| NM_001371727.1:c.522C>T MANE Select | NP_001358656.1:p.Cys174= | |
| NM_021911.3:c.522C>T | NP_068711.1:p.Cys174= |