Linked Data
ClinVar Variation Id:
481365
dbSNP Id:
rs730881409
gnomAD v2:
2-215593430-C-T
gnomAD v4:
2-214728706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728706C>T , CM000664.2:g.214728706C>T | GRCh38 |
| NC_000002.11:g.215593430C>T , CM000664.1:g.215593430C>T | GRCh37 |
| NC_000002.10:g.215301675C>T | NCBI36 |
| NG_012047.2:g.85999G>A | |
| NG_012047.3:g.86006G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2304G>A MANE Select | ENSP00000260947.4:p.Met768Ile | |
| ENST00000421162.2:c.951G>A | ENSP00000392245.2:p.Met317Ile | |
| ENST00000613192.2:c.*367G>A | ENSP00000483275.2:n.*367G>A | |
| ENST00000613374.5:c.894G>A | ENSP00000484464.1:p.Met298Ile | |
| ENST00000613706.5:c.1896G>A | ENSP00000484976.2:p.Met632Ile | |
| ENST00000617164.5:c.2247G>A | ENSP00000480470.1:p.Met749Ile | |
| ENST00000619009.5:c.765G>A | ENSP00000482293.1:p.Met255Ile | |
| ENST00000650978.1:c.3679G>A | ||
| ENST00000260947.8:c.2304G>A | ENSP00000260947.4:p.Met768Ile | |
| ENST00000432456.5:c.447G>A | ||
| ENST00000455743.5:c.*1924G>A | ENSP00000412186.1:n.*1924G>A | |
| ENST00000471590.5:n.639G>A | ||
| ENST00000613192.1:c.474G>A | ENSP00000483275.1:p.Met158Ile | |
| ENST00000613374.4:c.894G>A | ENSP00000484464.1:p.Met298Ile | |
| ENST00000613706.4:c.951G>A | ENSP00000484976.1:p.Met317Ile | |
| ENST00000617164.4:c.2247G>A | ENSP00000480470.1:p.Met749Ile | |
| ENST00000619009.4:c.765G>A | ENSP00000482293.1:p.Met255Ile | |
| ENST00000620057.4:c.*970G>A | ENSP00000481988.1:n.*970G>A | |
| NM_000465.3:c.2304G>A | NP_000456.2:p.Met768Ile | |
| NM_001282543.1:c.2247G>A | NP_001269472.1:p.Met749Ile | |
| NM_001282545.1:c.951G>A | NP_001269474.1:p.Met317Ile | |
| NM_001282548.1:c.894G>A | NP_001269477.1:p.Met298Ile | |
| NM_001282549.1:c.765G>A | NP_001269478.1:p.Met255Ile | |
| NR_104212.1:n.2297G>A | ||
| NR_104215.1:n.2240G>A | ||
| NR_104216.1:n.1496G>A | ||
| XM_011511567.1:c.2250G>A | XP_011509869.1:p.Met750Ile | |
| XM_017004613.1:c.2403G>A | XP_016860102.1:p.Met801Ile | |
| XR_002959322.1:n.2670G>A | ||
| NM_000465.4:c.2304G>A MANE Select | NP_000456.2:p.Met768Ile | |
| NM_001282543.2:c.2247G>A | NP_001269472.1:p.Met749Ile | |
| NM_001282545.2:c.951G>A | NP_001269474.1:p.Met317Ile | |
| NM_001282548.2:c.894G>A | NP_001269477.1:p.Met298Ile | |
| NM_001282549.2:c.765G>A | NP_001269478.1:p.Met255Ile | |
| NR_104212.2:n.2269G>A | ||
| NR_104215.2:n.2212G>A | ||
| NR_104216.2:n.1468G>A |