Linked Data
ClinVar Variation Id:
1454232
ClinVar RCV Id:
RCV001941767
dbSNP Id:
rs1965289455
gnomAD v3:
16-23529614-G-A
gnomAD v4:
16-23529614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23529614G>A , CM000678.2:g.23529614G>A | GRCh38 |
| NC_000016.9:g.23540935G>A , CM000678.1:g.23540935G>A | GRCh37 |
| NC_000016.8:g.23448436G>A | NCBI36 |
| NG_027752.1:g.32762C>T | |
| NG_027752.2:g.32762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.1240C>T MANE Select | ENSP00000395196.2:p.Gln414Ter | |
| ENST00000674054.1:c.1240C>T | ENSP00000501251.1:p.Gln414Ter | |
| ENST00000449606.5:c.1240C>T | ENSP00000395196.1:p.Gln414Ter | |
| ENST00000563232.1:c.1240C>T | ENSP00000456218.1:p.Gln414Ter | |
| ENST00000563459.5:c.1240C>T | ENSP00000456467.1:p.Gln414Ter | |
| ENST00000564501.5:c.1240C>T | ENSP00000457107.1:p.Gln414Ter | |
| ENST00000564987.1:n.884C>T | ||
| NM_001083614.1:c.1240C>T | NP_001077083.1:p.Gln414Ter | |
| NM_001308211.1:c.1240C>T | NP_001295140.1:p.Gln414Ter | |
| NR_003501.1:n.1272C>T | ||
| XM_011545738.1:c.1168C>T | XP_011544040.1:p.Gln390Ter | |
| XM_011545739.1:c.961C>T | XP_011544041.1:p.Gln321Ter | |
| XR_001751841.1:n.1562C>T | ||
| NM_001083614.2:c.1240C>T MANE Select | NP_001077083.1:p.Gln414Ter | |
| NR_003501.2:n.1247C>T |