Linked Data
ClinVar Variation Id:
161770
ClinVar RCV Id:
RCV000149306
dbSNP Id:
rs193920908
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.18081394G>T , CM000674.2:g.18081394G>T | GRCh38 |
| NC_000012.11:g.18234328G>T , CM000674.1:g.18234328G>T | GRCh37 |
| NC_000012.10:g.18125595G>T | NCBI36 |
| NG_052618.1:g.13800C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538724.6:c.412C>A MANE Select | ENSP00000437814.1:p.Gln138Lys | |
| ENST00000229002.6:c.415C>A | ENSP00000229002.2:p.Gln139Lys | |
| ENST00000536890.1:c.*120C>A | ENSP00000437490.1:n.*120C>A | |
| ENST00000538724.5:c.412C>A | ENSP00000437814.1:p.Gln138Lys | |
| ENST00000540148.5:n.421C>A | ||
| ENST00000541632.1:n.701C>A | ||
| NM_001286201.1:c.412C>A | NP_001273130.1:p.Gln138Lys | |
| NM_024730.3:c.415C>A | NP_079006.1:p.Gln139Lys | |
| NR_104413.1:n.362C>A | ||
| NM_001286201.2:c.412C>A MANE Select | NP_001273130.1:p.Gln138Lys | |
| NM_024730.4:c.415C>A | NP_079006.1:p.Gln139Lys |