Linked Data
dbSNP Id:
rs767559645
ExAC:
14:77745096 T / C
gnomAD v2:
14-77745096-T-C
gnomAD v4:
14-77278753-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278753T>C , CM000676.2:g.77278753T>C | GRCh38 |
| NC_000014.8:g.77745096T>C , CM000676.1:g.77745096T>C | GRCh37 |
| NC_000014.7:g.76814849T>C | NCBI36 |
| NG_008897.1:g.47130A>G , LRG_844:g.47130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.933A>G | ||
| ENST00000556394.2:c.1549A>G | ENSP00000451967.2:p.Met517Val | |
| ENST00000682128.1:c.309A>G | ENSP00000506976.1:n.309A>G | |
| ENST00000682247.1:c.1997A>G | ENSP00000507213.1:p.His666Arg | |
| ENST00000682395.1:n.2472A>G | ||
| ENST00000682459.1:n.1711A>G | ||
| ENST00000682467.1:c.1892-245A>G | ENSP00000508062.1:n.1892-245A>G | |
| ENST00000682615.1:n.362A>G | ||
| ENST00000682795.1:c.2155A>G | ENSP00000507574.1:p.Met719Val | |
| ENST00000682895.1:n.1724A>G | ||
| ENST00000682955.1:n.1582A>G | ||
| ENST00000683095.1:c.414A>G | ENSP00000508040.1:n.414A>G | |
| ENST00000683188.1:c.2269A>G | ||
| ENST00000683380.1:n.1672A>G | ||
| ENST00000683907.1:c.273A>G | ENSP00000507754.1:n.273A>G | |
| ENST00000684172.1:c.384A>G | ENSP00000508391.1:n.384A>G | |
| ENST00000684259.1:n.3775A>G | ||
| ENST00000684538.1:n.1387A>G | ||
| ENST00000684549.1:n.1559A>G | ||
| ENST00000261534.9:c.2008A>G MANE Select | ENSP00000261534.4:p.Met670Val | |
| ENST00000261534.8:c.2008A>G | ENSP00000261534.4:p.Met670Val | |
| ENST00000452340.7:n.2984A>G | ||
| ENST00000554767.5:n.2794A>G | ||
| ENST00000555710.1:c.369A>G | ENSP00000451730.1:n.369A>G | |
| ENST00000556394.1:c.88-245A>G | ||
| ENST00000556446.1:n.309A>G | ||
| ENST00000602717.5:c.223A>G | ENSP00000487704.1:p.Met75Val | |
| NM_013382.5:c.2008A>G , LRG_844t1:c.2008A>G | NP_037514.2:p.Met670Val | |
| XM_011536675.1:c.2197A>G | XP_011534977.1:p.Met733Val | |
| XM_011536676.1:c.1864A>G | XP_011534978.1:p.Met622Val | |
| XM_011536677.1:c.1738A>G | XP_011534979.1:p.Met580Val | |
| XM_011536679.1:c.1291A>G | XP_011534981.1:p.Met431Val | |
| XR_943416.1:n.2261A>G | ||
| XM_011536675.2:c.2197A>G | XP_011534977.1:p.Met733Val | |
| XM_011536676.2:c.1864A>G | XP_011534978.1:p.Met622Val | |
| XM_011536677.3:c.1738A>G | XP_011534979.1:p.Met580Val | |
| XR_001750279.1:n.2294A>G | ||
| XR_001750282.1:n.2947A>G | ||
| XR_943416.3:n.2259A>G | ||
| NM_013382.6:c.2008A>G | NP_037514.2:p.Met670Val | |
| NM_013382.7:c.2008A>G MANE Select | NP_037514.2:p.Met670Val |