Linked Data
ClinVar Variation Id:
439722
ClinVar RCV Id:
RCV000506695
dbSNP Id:
rs759633050
ExAC:
5:127728862 C / T
gnomAD v2:
5-127728862-C-T
gnomAD v3:
5-128393169-C-T
gnomAD v4:
5-128393169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128393169C>T , CM000667.2:g.128393169C>T | GRCh38 |
| NC_000005.9:g.127728862C>T , CM000667.1:g.127728862C>T | GRCh37 |
| NC_000005.8:g.127756761C>T | NCBI36 |
| NG_008750.1:g.149874G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703787.1:n.1138G>A | ||
| ENST00000262464.9:c.1431G>A MANE Select | ENSP00000262464.4:p.Gly477= | |
| ENST00000262464.8:c.1431G>A | ENSP00000262464.4:p.Gly477= | |
| ENST00000508053.5:c.1431G>A | ENSP00000424571.1:p.Gly477= | |
| ENST00000508989.5:c.1332G>A | ENSP00000425596.1:p.Gly444= | |
| ENST00000619499.4:c.1428G>A | ENSP00000482132.1:p.Gly476= | |
| NM_001999.3:c.1431G>A | NP_001990.2:p.Gly477= | |
| XM_017009228.2:c.1278G>A | XP_016864717.1:p.Gly426= | |
| NM_001999.4:c.1431G>A MANE Select | NP_001990.2:p.Gly477= |