Linked Data
ClinVar Variation Id:
1702244
ClinVar RCV Id:
RCV002278033
dbSNP Id:
rs863223565
gnomAD v4:
5-128338949-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338949C>G , CM000667.2:g.128338949C>G | GRCh38 |
| NC_000005.9:g.127674641C>G , CM000667.1:g.127674641C>G | GRCh37 |
| NC_000005.8:g.127702540C>G | NCBI36 |
| NG_008750.1:g.204095G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.240G>C | ||
| ENST00000703785.1:n.321G>C | ||
| ENST00000262464.9:c.3456G>C MANE Select | ENSP00000262464.4:p.Met1152Ile | |
| ENST00000262464.8:c.3456G>C | ENSP00000262464.4:p.Met1152Ile | |
| ENST00000507835.5:c.6G>C | ENSP00000426839.1:p.Met2Ile | |
| ENST00000508053.5:c.3456G>C | ENSP00000424571.1:p.Met1152Ile | |
| ENST00000508989.5:c.3357G>C | ENSP00000425596.1:p.Met1119Ile | |
| ENST00000619499.4:c.3453G>C | ENSP00000482132.1:p.Met1151Ile | |
| NM_001999.3:c.3456G>C | NP_001990.2:p.Met1152Ile | |
| XM_017009228.2:c.3303G>C | XP_016864717.1:p.Met1101Ile | |
| NM_001999.4:c.3456G>C MANE Select | NP_001990.2:p.Met1152Ile |