Linked Data
ClinVar Variation Id:
376174
ClinVar RCV Id:
RCV000419591
RCV000420720
RCV000427279
RCV000429649
RCV000430292
RCV000436816
RCV000437917
dbSNP Id:
rs869025608
COSMIC:
COSM5520914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66435117G>C , CM000677.2:g.66435117G>C | GRCh38 |
| NC_000015.9:g.66727455G>C , CM000677.1:g.66727455G>C | GRCh37 |
| NC_000015.8:g.64514509G>C | NCBI36 |
| NG_008305.1:g.53245G>C , LRG_725:g.53245G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.105G>C | ENSP00000508681.1:p.Lys35Asn | |
| ENST00000685172.1:c.171G>C | ENSP00000509604.1:p.Lys57Asn | |
| ENST00000685763.1:c.171G>C | ENSP00000509016.1:p.Lys57Asn | |
| ENST00000686347.1:c.171G>C | ENSP00000509027.1:p.Lys57Asn | |
| ENST00000687191.1:n.607G>C | ||
| ENST00000689951.1:c.171G>C | ENSP00000509308.1:p.Lys57Asn | |
| ENST00000691077.1:c.171G>C | ENSP00000509843.1:p.Lys57Asn | |
| ENST00000691576.1:c.171G>C | ENSP00000510066.1:p.Lys57Asn | |
| ENST00000691937.1:c.171G>C | ENSP00000508768.1:p.Lys57Asn | |
| ENST00000692487.1:c.171G>C | ENSP00000509534.1:p.Lys57Asn | |
| ENST00000692683.1:c.105G>C | ENSP00000508437.1:p.Lys35Asn | |
| ENST00000693150.1:c.105G>C | ENSP00000510309.1:p.Lys35Asn | |
| ENST00000307102.10:c.171G>C MANE Select | ENSP00000302486.5:p.Lys57Asn | |
| ENST00000307102.9:c.171G>C | ENSP00000302486.4:p.Lys57Asn | |
| ENST00000425818.2:n.682G>C | ||
| NM_002755.3:c.171G>C , LRG_725t1:c.171G>C | NP_002746.1:p.Lys57Asn | |
| XM_011521783.1:c.105G>C | XP_011520085.1:p.Lys35Asn | |
| XM_011521783.3:c.105G>C | XP_011520085.1:p.Lys35Asn | |
| XM_017022411.2:c.171G>C | XP_016877900.1:p.Lys57Asn | |
| XM_017022412.1:c.105G>C | XP_016877901.1:p.Lys35Asn | |
| NM_002755.4:c.171G>C MANE Select | NP_002746.1:p.Lys57Asn |