Linked Data
ClinVar Variation Id:
213250
dbSNP Id:
rs863223546
gnomAD v2:
5-127613638-T-C
gnomAD v3:
5-128277946-T-C
gnomAD v4:
5-128277946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128277946T>C , CM000667.2:g.128277946T>C | GRCh38 |
| NC_000005.9:g.127613638T>C , CM000667.1:g.127613638T>C | GRCh37 |
| NC_000005.8:g.127641537T>C | NCBI36 |
| NG_008750.1:g.265098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.4189A>G | ||
| ENST00000262464.9:c.7405A>G MANE Select | ENSP00000262464.4:p.Met2469Val | |
| ENST00000262464.8:c.7405A>G | ENSP00000262464.4:p.Met2469Val | |
| ENST00000508053.5:c.7405A>G | ENSP00000424571.1:p.Met2469Val | |
| ENST00000619499.4:c.7402A>G | ENSP00000482132.1:p.Met2468Val | |
| NM_001999.3:c.7405A>G | NP_001990.2:p.Met2469Val | |
| XM_017009228.2:c.7252A>G | XP_016864717.1:p.Met2418Val | |
| NM_001999.4:c.7405A>G MANE Select | NP_001990.2:p.Met2469Val |