Linked Data
ClinVar Variation Id:
4335
dbSNP Id:
rs75671029
ExAC:
1:155205047 C / T
gnomAD v2:
1-155205047-C-T
gnomAD v3:
1-155235256-C-T
gnomAD v4:
1-155235256-C-T
PubMed:
PMID:19286695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235256C>T , CM000663.2:g.155235256C>T | GRCh38 |
| NC_000001.10:g.155205047C>T , CM000663.1:g.155205047C>T | GRCh37 |
| NC_000001.9:g.153471671C>T | NCBI36 |
| NG_009783.1:g.14442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1444G>A MANE Select | ENSP00000357357.3:p.Asp482Asn | |
| ENST00000327247.9:c.1444G>A | ENSP00000314508.5:p.Asp482Asn | |
| ENST00000368373.7:c.1444G>A | ENSP00000357357.3:p.Asp482Asn | |
| ENST00000427500.7:c.1297G>A | ENSP00000402577.2:p.Asp433Asn | |
| ENST00000428024.3:c.1183G>A | ENSP00000397986.2:p.Asp395Asn | |
| ENST00000464536.1:n.190+390G>A | ||
| ENST00000478472.1:n.804G>A | ||
| ENST00000484489.5:n.603G>A | ||
| NM_000157.3:c.1444G>A | NP_000148.2:p.Asp482Asn | |
| NM_001005741.2:c.1444G>A | NP_001005741.1:p.Asp482Asn | |
| NM_001005742.2:c.1444G>A | NP_001005742.1:p.Asp482Asn | |
| NM_001171811.1:c.1183G>A | NP_001165282.1:p.Asp395Asn | |
| NM_001171812.1:c.1297G>A | NP_001165283.1:p.Asp433Asn | |
| XM_006711270.1:c.1444G>A | XP_006711333.1:p.Asp482Asn | |
| XM_011509407.1:c.1444G>A | XP_011507709.1:p.Asp482Asn | |
| NM_000157.4:c.1444G>A MANE Select | NP_000148.2:p.Asp482Asn | |
| NM_001005741.3:c.1444G>A | NP_001005741.1:p.Asp482Asn | |
| NM_001005742.3:c.1444G>A | NP_001005742.1:p.Asp482Asn | |
| NM_001171811.2:c.1183G>A | NP_001165282.1:p.Asp395Asn | |
| NM_001171812.2:c.1297G>A | NP_001165283.1:p.Asp433Asn |