Linked Data
ClinVar Variation Id:
281066
dbSNP Id:
rs886042092
gnomAD v4:
5-132390722-C-T
COSMIC:
COSM5099882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390722C>T , CM000667.2:g.132390722C>T | GRCh38 |
| NC_000005.9:g.131726414C>T , CM000667.1:g.131726414C>T | GRCh37 |
| NC_000005.8:g.131754313C>T | NCBI36 |
| NG_008982.1:g.26014C>T | |
| NG_008982.2:g.26019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.926C>T | ENSP00000388838.2:p.Ser309Leu | |
| ENST00000435065.7:c.1157C>T | ENSP00000402760.2:p.Ser386Leu | |
| ENST00000448810.6:c.1053-54C>T | ENSP00000401860.2:n.1053-54C>T | |
| ENST00000685543.1:n.1226C>T | ||
| ENST00000686757.1:c.*249C>T | ENSP00000510721.1:n.*249C>T | |
| ENST00000687740.1:n.3770C>T | ||
| ENST00000688151.1:n.2395C>T | ||
| ENST00000689271.1:c.932C>T | ENSP00000510797.1:p.Ser311Leu | |
| ENST00000690900.1:c.*249C>T | ENSP00000510703.1:n.*249C>T | |
| ENST00000692212.1:n.2697C>T | ||
| ENST00000692355.1:c.338C>T | ||
| ENST00000692413.1:c.1067C>T | ENSP00000509374.1:p.Ser356Leu | |
| ENST00000692825.1:c.1153C>T | ENSP00000509447.1:n.1153C>T | |
| ENST00000693308.1:c.1133C>T | ENSP00000509770.1:p.Ser378Leu | |
| ENST00000693763.1:n.2245C>T | ||
| ENST00000245407.8:c.1085C>T MANE Select | ENSP00000245407.3:p.Ser362Leu | |
| ENST00000245407.7:c.1085C>T | ENSP00000245407.3:p.Ser362Leu | |
| ENST00000435065.6:c.1157C>T | ENSP00000402760.2:p.Ser386Leu | |
| ENST00000447841.5:c.111+1701C>T | ||
| ENST00000448810.5:c.401-54C>T | ||
| ENST00000461013.5:n.8507C>T | ||
| ENST00000475308.1:n.1763C>T | ||
| ENST00000479605.5:n.188C>T | ||
| NM_001308122.1:c.1157C>T | NP_001295051.1:p.Ser386Leu | |
| NM_003060.3:c.1085C>T | NP_003051.1:p.Ser362Leu | |
| XM_011543590.1:c.467C>T | XP_011541892.1:p.Ser156Leu | |
| XR_427718.1:n.1445C>T | ||
| XR_948290.1:n.1393+1701C>T | ||
| XR_948291.1:n.1439C>T | ||
| XM_011543590.2:c.467C>T | XP_011541892.1:p.Ser156Leu | |
| XM_017009778.2:c.557C>T | XP_016865267.1:p.Ser186Leu | |
| XR_001742215.1:n.1394-54C>T | ||
| XR_001742216.1:n.1413-54C>T | ||
| XR_427718.2:n.1445C>T | ||
| XR_948290.2:n.1393+1701C>T | ||
| XR_948291.2:n.1439C>T | ||
| NM_003060.4:c.1085C>T MANE Select | NP_003051.1:p.Ser362Leu | |
| NM_001308122.2:c.1157C>T | NP_001295051.1:p.Ser386Leu |