Linked Data
ClinVar Variation Id:
2471402
ClinVar RCV Id:
RCV004261897
dbSNP Id:
rs757607313
ExAC:
11:18357388 A / G
gnomAD v2:
11-18357388-A-G
gnomAD v3:
11-18335841-A-G
gnomAD v4:
11-18335841-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18335841A>G , CM000673.2:g.18335841A>G | GRCh38 |
| NC_000011.9:g.18357388A>G , CM000673.1:g.18357388A>G | GRCh37 |
| NC_000011.8:g.18313964A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265963.9:c.242A>G MANE Select | ENSP00000265963.4:p.Asn81Ser | |
| ENST00000265963.8:c.242A>G | ENSP00000265963.4:p.Asn81Ser | |
| ENST00000418116.6:n.441A>G | ||
| ENST00000453096.6:c.242A>G | ENSP00000393638.2:p.Asn81Ser | |
| ENST00000525831.5:c.242A>G | ENSP00000431481.1:p.Asn81Ser | |
| ENST00000531757.5:n.512A>G | ||
| ENST00000534641.5:c.-1-2268A>G | ENSP00000435375.1:n.-1-2268A>G | |
| ENST00000543932.5:n.655A>G | ||
| NM_001142307.1:c.242A>G | NP_001135779.1:p.Asn81Ser | |
| NM_005316.3:c.242A>G | NP_005307.1:p.Asn81Ser | |
| XM_006718208.2:c.242A>G | XP_006718271.1:p.Asn81Ser | |
| XM_006718208.3:c.242A>G | XP_006718271.1:p.Asn81Ser | |
| XM_024448457.1:c.242A>G | XP_024304225.1:p.Asn81Ser | |
| XM_024448458.1:c.242A>G | XP_024304226.1:p.Asn81Ser | |
| NM_005316.4:c.242A>G MANE Select | NP_005307.1:p.Asn81Ser | |
| NM_001142307.2:c.242A>G | NP_001135779.1:p.Asn81Ser |