Linked Data
ClinVar Variation Id:
14714
ClinVar RCV Id:
RCV000015829
dbSNP Id:
rs121913160
gnomAD v4:
19-7170648-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7170648T>C , CM000681.2:g.7170648T>C | GRCh38 |
| NC_000019.9:g.7170659T>C , CM000681.1:g.7170659T>C | GRCh37 |
| NC_000019.8:g.7121659T>C | NCBI36 |
| NG_008852.2:g.128353A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.1372A>G MANE Select | ENSP00000303830.4:p.Asn458Asp | |
| ENST00000302850.9:c.1372A>G | ENSP00000303830.4:p.Asn458Asp | |
| ENST00000341500.9:c.1372A>G | ENSP00000342838.4:p.Asn458Asp | |
| ENST00000598216.1:n.1347A>G | ||
| NM_000208.2:c.1372A>G | NP_000199.2:p.Asn458Asp | |
| NM_000208.3:c.1372A>G | NP_000199.2:p.Asn458Asp | |
| NM_001079817.1:c.1372A>G | NP_001073285.1:p.Asn458Asp | |
| NM_001079817.2:c.1372A>G | NP_001073285.1:p.Asn458Asp | |
| XM_011527988.1:c.1450A>G | XP_011526290.1:p.Asn484Asp | |
| XM_011527989.1:c.1450A>G | XP_011526291.1:p.Asn484Asp | |
| XM_011527988.2:c.1372A>G | XP_011526290.2:p.Asn458Asp | |
| XM_011527989.3:c.1372A>G | XP_011526291.2:p.Asn458Asp | |
| NM_000208.4:c.1372A>G MANE Select | NP_000199.2:p.Asn458Asp | |
| NM_001079817.3:c.1372A>G | NP_001073285.1:p.Asn458Asp |