Linked Data
ClinVar Variation Id:
213420
dbSNP Id:
rs766808076
ExAC:
5:127624858 T / C
gnomAD v2:
5-127624858-T-C
gnomAD v3:
5-128289166-T-C
gnomAD v4:
5-128289166-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128289166T>C , CM000667.2:g.128289166T>C | GRCh38 |
| NC_000005.9:g.127624858T>C , CM000667.1:g.127624858T>C | GRCh37 |
| NC_000005.8:g.127652757T>C | NCBI36 |
| NG_008750.1:g.253878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3382A>G | ||
| ENST00000703785.1:n.3301A>G | ||
| ENST00000262464.9:c.6598A>G MANE Select | ENSP00000262464.4:p.Met2200Val | |
| ENST00000262464.8:c.6598A>G | ENSP00000262464.4:p.Met2200Val | |
| ENST00000508053.5:c.6598A>G | ENSP00000424571.1:p.Met2200Val | |
| ENST00000619499.4:c.6595A>G | ENSP00000482132.1:p.Met2199Val | |
| NM_001999.3:c.6598A>G | NP_001990.2:p.Met2200Val | |
| XM_017009228.2:c.6445A>G | XP_016864717.1:p.Met2149Val | |
| NM_001999.4:c.6598A>G MANE Select | NP_001990.2:p.Met2200Val |