Linked Data
ClinVar Variation Id:
2027991
ClinVar RCV Id:
RCV002866892
dbSNP Id:
rs1408892743
gnomAD v2:
14-74970188-G-A
gnomAD v4:
14-74503485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74503485G>A , CM000676.2:g.74503485G>A | GRCh38 |
| NC_000014.8:g.74970188G>A , CM000676.1:g.74970188G>A | GRCh37 |
| NC_000014.7:g.74039941G>A | NCBI36 |
| NG_021486.1:g.113847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.4704C>T MANE Select | ENSP00000261978.4:p.Asn1568= | |
| ENST00000261978.8:c.4704C>T | ENSP00000261978.4:p.Asn1568= | |
| ENST00000553939.5:c.4704C>T | ENSP00000452110.1:p.Asn1568= | |
| ENST00000556690.5:c.4572C>T | ENSP00000451477.1:p.Asn1524= | |
| NM_000428.2:c.4704C>T | NP_000419.1:p.Asn1568= | |
| XM_011536765.1:c.4323C>T | XP_011535067.1:p.Asn1441= | |
| XM_011536766.1:c.4245C>T | XP_011535068.1:p.Asn1415= | |
| XM_011536767.1:c.4221C>T | XP_011535069.1:p.Asn1407= | |
| XM_011536765.2:c.4323C>T | XP_011535067.1:p.Asn1441= | |
| NM_000428.3:c.4704C>T MANE Select | NP_000419.1:p.Asn1568= |