ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64189881A>G , CM000685.2:g.64189881A>G | GRCh38 |
| NC_000023.10:g.63409761A>G , CM000685.1:g.63409761A>G | GRCh37 |
| NC_000023.9:g.63326486A>G | NCBI36 |
| NG_021345.1:g.20864T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.3406T>C MANE Select | ENSP00000364003.4:p.Ter1136Gln | |
| ENST00000330258.3:c.3406T>C | ENSP00000329117.3:p.Ter1136Gln | |
| ENST00000374869.7:c.2357+1049T>C | ENSP00000364003.3:n.2357+1049T>C | |
| NM_152424.3:c.3406T>C | NP_689637.3:p.Ter1136Gln | |
| XM_011530858.1:c.3406T>C | XP_011529160.1:p.Ter1136Gln | |
| NM_152424.4:c.3406T>C MANE Select | NP_689637.3:p.Ter1136Gln |