Linked Data
ClinVar Variation Id:
16787
dbSNP Id:
rs121913023
gnomAD v2:
19-45855769-C-T
gnomAD v3:
19-45352511-C-T
gnomAD v4:
19-45352511-C-T
PubMed:
PMID:11443545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352511C>T , CM000681.2:g.45352511C>T | GRCh38 |
| NC_000019.9:g.45855769C>T , CM000681.1:g.45855769C>T | GRCh37 |
| NC_000019.8:g.50547609C>T | NCBI36 |
| NG_007067.2:g.23077G>A , LRG_461:g.23077G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2041G>A | ENSP00000375808.4:p.Asp681Asn | |
| ENST00000682414.1:c.2041G>A | ENSP00000507019.1:p.Asp681Asn | |
| ENST00000682508.1:n.2070G>A | ||
| ENST00000684218.1:c.*1299G>A | ENSP00000507804.1:n.*1299G>A | |
| ENST00000684264.1:n.1597G>A | ||
| ENST00000684407.1:c.1918G>A | ENSP00000507775.1:p.Asp640Asn | |
| ENST00000684458.1:c.*527G>A | ENSP00000508260.1:n.*527G>A | |
| ENST00000684468.1:n.1753G>A | ||
| ENST00000391945.10:c.2041G>A MANE Select | ENSP00000375809.4:p.Asp681Asn | |
| ENST00000646507.1:n.2138G>A | ||
| ENST00000391941.6:c.1969G>A | ENSP00000375805.2:p.Asp657Asn | |
| ENST00000391942.6:n.1212G>A | ||
| ENST00000391944.7:c.1807G>A | ENSP00000375808.3:p.Asp603Asn | |
| ENST00000391945.8:c.2041G>A | ENSP00000375809.3:p.Asp681Asn | |
| ENST00000588652.5:n.2129G>A | ||
| NM_000400.3:c.2041G>A , LRG_461t1:c.2041G>A | NP_000391.1:p.Asp681Asn | |
| XM_011526611.1:c.1963G>A | XP_011524913.1:p.Asp655Asn | |
| XM_011526611.2:c.1963G>A | XP_011524913.1:p.Asp655Asn | |
| XM_017026467.1:c.1918G>A | XP_016881956.1:p.Asp640Asn | |
| XR_001753633.2:n.2088G>A | ||
| XR_001753634.2:n.2024G>A | ||
| NM_000400.4:c.2041G>A MANE Select | NP_000391.1:p.Asp681Asn |