Linked Data
ClinVar Variation Id:
213323
dbSNP Id:
rs776567929
ExAC:
5:127670501 T / C
gnomAD v2:
5-127670501-T-C
gnomAD v4:
5-128334809-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128334809T>C , CM000667.2:g.128334809T>C | GRCh38 |
| NC_000005.9:g.127670501T>C , CM000667.1:g.127670501T>C | GRCh37 |
| NC_000005.8:g.127698400T>C | NCBI36 |
| NG_008750.1:g.208235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.793A>G | ||
| ENST00000703785.1:n.874A>G | ||
| ENST00000262464.9:c.4009A>G MANE Select | ENSP00000262464.4:p.Met1337Val | |
| ENST00000262464.8:c.4009A>G | ENSP00000262464.4:p.Met1337Val | |
| ENST00000507835.5:c.559A>G | ENSP00000426839.1:p.Met187Val | |
| ENST00000508053.5:c.4009A>G | ENSP00000424571.1:p.Met1337Val | |
| ENST00000508989.5:c.3910A>G | ENSP00000425596.1:p.Met1304Val | |
| ENST00000619499.4:c.4006A>G | ENSP00000482132.1:p.Met1336Val | |
| NM_001999.3:c.4009A>G | NP_001990.2:p.Met1337Val | |
| XM_017009228.2:c.3856A>G | XP_016864717.1:p.Met1286Val | |
| NM_001999.4:c.4009A>G MANE Select | NP_001990.2:p.Met1337Val |