Linked Data
ClinVar Variation Id:
528418
ClinVar RCV Id:
RCV000633607
dbSNP Id:
rs1554115164
gnomAD v4:
5-128259571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259571T>C , CM000667.2:g.128259571T>C | GRCh38 |
| NC_000005.9:g.127595263T>C , CM000667.1:g.127595263T>C | GRCh37 |
| NC_000005.8:g.127623162T>C | NCBI36 |
| NG_008750.1:g.283473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8623A>G MANE Select | ENSP00000262464.4:p.Ile2875Val | |
| ENST00000262464.8:c.8623A>G | ENSP00000262464.4:p.Ile2875Val | |
| ENST00000508053.5:c.8623A>G | ENSP00000424571.1:p.Ile2875Val | |
| ENST00000619499.4:c.8620A>G | ENSP00000482132.1:p.Ile2874Val | |
| NM_001999.3:c.8623A>G | NP_001990.2:p.Ile2875Val | |
| XM_017009228.2:c.8470A>G | XP_016864717.1:p.Ile2824Val | |
| NM_001999.4:c.8623A>G MANE Select | NP_001990.2:p.Ile2875Val |