Linked Data
ClinVar Variation Id:
13514
ClinVar RCV Id:
RCV000014468
dbSNP Id:
rs121918055
PubMed:
PMID:17420318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326965C>T , CM000677.2:g.89326965C>T | GRCh38 |
| NC_000015.9:g.89870196C>T , CM000677.1:g.89870196C>T | GRCh37 |
| NC_000015.8:g.87671200C>T | NCBI36 |
| NG_008218.1:g.12831G>A | |
| NG_008218.2:g.12831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1532G>A | ENSP00000516154.1:p.Ser511Asn | |
| ENST00000268124.11:c.1532G>A MANE Select | ENSP00000268124.5:p.Ser511Asn | |
| ENST00000530292.3:c.1133G>A | ENSP00000432885.2:p.Ser378Asn | |
| ENST00000635986.2:c.1532G>A | ENSP00000490653.2:p.Ser511Asn | |
| ENST00000636774.1:c.*99G>A | ENSP00000489799.1:n.*99G>A | |
| ENST00000637238.1:c.269G>A | ENSP00000490756.1:p.Ser90Asn | |
| ENST00000637264.1:c.604G>A | ||
| ENST00000666746.1:c.1109G>A | ||
| ENST00000672071.1:n.1730G>A | ||
| ENST00000672923.2:n.1635G>A | ||
| ENST00000268124.9:c.1532G>A | ENSP00000268124.5:p.Ser511Asn | |
| ENST00000442287.6:c.1532G>A | ENSP00000399851.2:p.Ser511Asn | |
| ENST00000631044.2:c.*915G>A | ENSP00000486730.1:n.*915G>A | |
| NM_001126131.1:c.1532G>A | NP_001119603.1:p.Ser511Asn | |
| NM_002693.2:c.1532G>A | NP_002684.1:p.Ser511Asn | |
| NM_001126131.2:c.1532G>A | NP_001119603.1:p.Ser511Asn | |
| NM_002693.3:c.1532G>A MANE Select | NP_002684.1:p.Ser511Asn |