Linked Data
ClinVar Variation Id:
29663
ClinVar RCV Id:
RCV000022512
dbSNP Id:
rs387906612
gnomAD v4:
1-147759094-G-A
PubMed:
PMID:20818502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147759094G>A , CM000663.2:g.147759094G>A | GRCh38 |
| NC_000001.10:g.147231202G>A , CM000663.1:g.147231202G>A | GRCh37 |
| NC_000001.9:g.145697826G>A | NCBI36 |
| NG_009369.2:g.19281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.145C>T MANE Select | ENSP00000463851.1:p.Gln49Ter | |
| ENST00000430508.1:c.145C>T | ENSP00000407645.1:p.Gln49Ter | |
| ENST00000579774.2:c.145C>T | ENSP00000463851.1:p.Gln49Ter | |
| ENST00000621517.1:c.145C>T | ENSP00000484552.1:p.Gln49Ter | |
| NM_005266.6:c.145C>T | NP_005257.2:p.Gln49Ter | |
| NM_181703.3:c.145C>T | NP_859054.1:p.Gln49Ter | |
| XM_005272951.3:c.145C>T | XP_005273008.1:p.Gln49Ter | |
| XM_011509415.1:c.145C>T | XP_011507717.1:p.Gln49Ter | |
| XR_922078.1:n.434-18467G>A | ||
| XR_922079.1:n.434-18467G>A | ||
| XM_005272951.4:c.145C>T | XP_005273008.1:p.Gln49Ter | |
| XM_017001044.1:c.145C>T | XP_016856533.1:p.Gln49Ter | |
| XR_922079.3:n.744-18467G>A | ||
| NM_181703.4:c.145C>T MANE Select | NP_859054.1:p.Gln49Ter | |
| NM_005266.7:c.145C>T | NP_005257.2:p.Gln49Ter |