Linked Data
ClinVar Variation Id:
16780
ClinVar RCV Id:
RCV000018269
dbSNP Id:
rs121913017
gnomAD v4:
19-45352223-G-A
PubMed:
PMID:7849702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352223G>A , CM000681.2:g.45352223G>A | GRCh38 |
| NC_000019.9:g.45855481G>A , CM000681.1:g.45855481G>A | GRCh37 |
| NC_000019.8:g.50547321G>A | NCBI36 |
| NG_007067.2:g.23365C>T , LRG_461:g.23365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2176C>T | ENSP00000375808.4:p.Gln726Ter | |
| ENST00000682414.1:c.2176C>T | ENSP00000507019.1:p.Gln726Ter | |
| ENST00000682508.1:n.2205C>T | ||
| ENST00000684218.1:c.*1434C>T | ENSP00000507804.1:n.*1434C>T | |
| ENST00000684264.1:n.1732C>T | ||
| ENST00000684407.1:c.2053C>T | ENSP00000507775.1:p.Gln685Ter | |
| ENST00000684458.1:c.*662C>T | ENSP00000508260.1:n.*662C>T | |
| ENST00000684468.1:n.1888C>T | ||
| ENST00000391945.10:c.2176C>T MANE Select | ENSP00000375809.4:p.Gln726Ter | |
| ENST00000646507.1:n.2273C>T | ||
| ENST00000391941.6:c.2104C>T | ENSP00000375805.2:p.Gln702Ter | |
| ENST00000391942.6:n.1347C>T | ||
| ENST00000391944.7:c.1942C>T | ENSP00000375808.3:p.Gln648Ter | |
| ENST00000391945.8:c.2176C>T | ENSP00000375809.3:p.Gln726Ter | |
| ENST00000588652.5:n.2264C>T | ||
| NM_000400.3:c.2176C>T , LRG_461t1:c.2176C>T | NP_000391.1:p.Gln726Ter | |
| XM_011526611.1:c.2098C>T | XP_011524913.1:p.Gln700Ter | |
| XM_011526611.2:c.2098C>T | XP_011524913.1:p.Gln700Ter | |
| XM_017026467.1:c.2053C>T | XP_016881956.1:p.Gln685Ter | |
| XR_001753633.2:n.2223C>T | ||
| XR_001753634.2:n.2159C>T | ||
| NM_000400.4:c.2176C>T MANE Select | NP_000391.1:p.Gln726Ter |