Linked Data
ClinVar Variation Id:
156320
dbSNP Id:
rs77238412
ExAC:
4:74274452 C / T
gnomAD v2:
4-74274452-C-T
gnomAD v3:
4-73408735-C-T
gnomAD v4:
4-73408735-C-T
COSMIC:
COSM1057398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73408735C>T , CM000666.2:g.73408735C>T | GRCh38 |
| NC_000004.11:g.74274452C>T , CM000666.1:g.74274452C>T | GRCh37 |
| NC_000004.10:g.74493316C>T | NCBI36 |
| NG_009291.1:g.9481C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.412C>T MANE Select | ENSP00000295897.4:p.Arg138Ter | |
| ENST00000295897.8:c.412C>T | ENSP00000295897.4:p.Arg138Ter | |
| ENST00000401494.7:c.138-620C>T | ENSP00000384695.3:n.138-620C>T | |
| ENST00000415165.6:c.138-3261C>T | ENSP00000401820.2:n.138-3261C>T | |
| ENST00000441319.5:c.418C>T | ENSP00000392541.1:p.Arg140Ter | |
| ENST00000476441.6:c.80-620C>T | ENSP00000423727.1:n.80-620C>T | |
| ENST00000503124.5:c.33-620C>T | ENSP00000421027.1:n.33-620C>T | |
| ENST00000505649.5:n.98C>T | ||
| ENST00000509063.5:c.412C>T | ENSP00000422784.1:p.Arg138Ter | |
| ENST00000510166.5:n.448C>T | ||
| ENST00000514786.1:n.381C>T | ||
| ENST00000515133.5:n.453C>T | ||
| ENST00000621085.4:c.412C>T | ENSP00000483421.1:p.Arg138Ter | |
| ENST00000621628.4:c.412C>T | ENSP00000480485.1:p.Arg138Ter | |
| NM_000477.5:c.412C>T | NP_000468.1:p.Arg138Ter | |
| NM_000477.6:c.412C>T | NP_000468.1:p.Arg138Ter | |
| NM_000477.7:c.412C>T MANE Select | NP_000468.1:p.Arg138Ter |