Linked Data
ClinVar Variation Id:
350756
ClinVar RCV Id:
RCV000353904
dbSNP Id:
rs542824837
ExAC:
5:127595285 T / C
gnomAD v2:
5-127595285-T-C
gnomAD v3:
5-128259593-T-C
gnomAD v4:
5-128259593-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259593T>C , CM000667.2:g.128259593T>C | GRCh38 |
| NC_000005.9:g.127595285T>C , CM000667.1:g.127595285T>C | GRCh37 |
| NC_000005.8:g.127623184T>C | NCBI36 |
| NG_008750.1:g.283451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8601A>G MANE Select | ENSP00000262464.4:p.Thr2867= | |
| ENST00000262464.8:c.8601A>G | ENSP00000262464.4:p.Thr2867= | |
| ENST00000508053.5:c.8601A>G | ENSP00000424571.1:p.Thr2867= | |
| ENST00000619499.4:c.8598A>G | ENSP00000482132.1:p.Thr2866= | |
| NM_001999.3:c.8601A>G | NP_001990.2:p.Thr2867= | |
| XM_017009228.2:c.8448A>G | XP_016864717.1:p.Thr2816= | |
| NM_001999.4:c.8601A>G MANE Select | NP_001990.2:p.Thr2867= |