Linked Data
ClinVar Variation Id:
419964
ClinVar RCV Id:
RCV000481501
dbSNP Id:
rs1064794209
gnomAD v4:
11-47342581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342581G>A , CM000673.2:g.47342581G>A | GRCh38 |
| NC_000011.9:g.47364132G>A , CM000673.1:g.47364132G>A | GRCh37 |
| NC_000011.8:g.47320708G>A | NCBI36 |
| NG_007667.1:g.15122C>T , LRG_386:g.15122C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1621C>T MANE Select | ENSP00000442795.1:p.Gln541Ter | |
| ENST00000256993.8:c.1621C>T | ENSP00000256993.5:p.Gln541Ter | |
| ENST00000399249.6:c.1621C>T | ENSP00000382193.2:p.Gln541Ter | |
| ENST00000544791.1:c.1621C>T | ENSP00000444259.1:p.Gln541Ter | |
| ENST00000545968.5:c.1621C>T | ENSP00000442795.1:p.Gln541Ter | |
| NM_000256.3:c.1621C>T , LRG_386t1:c.1621C>T MANE Select | NP_000247.2:p.Gln541Ter | |
| XM_011520117.1:c.1603C>T | XP_011518419.1:p.Gln535Ter | |
| XM_011520118.1:c.1621C>T | XP_011518420.1:p.Gln541Ter |