Linked Data
ClinVar Variation Id:
350760
ClinVar RCV Id:
RCV000331899
dbSNP Id:
rs779409691
ExAC:
5:127595534 C / T
gnomAD v2:
5-127595534-C-T
gnomAD v4:
5-128259842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259842C>T , CM000667.2:g.128259842C>T | GRCh38 |
| NC_000005.9:g.127595534C>T , CM000667.1:g.127595534C>T | GRCh37 |
| NC_000005.8:g.127623433C>T | NCBI36 |
| NG_008750.1:g.283202G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.8365-13G>A MANE Select | ENSP00000262464.4:n.8365-13G>A | |
| ENST00000262464.8:c.8365-13G>A | ENSP00000262464.4:n.8365-13G>A | |
| ENST00000508053.5:c.8365-13G>A | ENSP00000424571.1:n.8365-13G>A | |
| ENST00000619499.4:c.8362-13G>A | ENSP00000482132.1:n.8362-13G>A | |
| NM_001999.3:c.8365-13G>A | NP_001990.2:n.8365-13G>A | |
| XM_017009228.2:c.8212-13G>A | XP_016864717.1:n.8212-13G>A | |
| NM_001999.4:c.8365-13G>A MANE Select | NP_001990.2:n.8365-13G>A |