Linked Data
ClinVar Variation Id:
2428063
ClinVar RCV Id:
RCV003117034
dbSNP Id:
rs367553910
ExAC:
X:99920596 C / T
gnomAD v2:
X-99920596-C-T
gnomAD v3:
X-100665599-C-T
gnomAD v4:
X-100665599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665599C>T , CM000685.2:g.100665599C>T | GRCh38 |
| NC_000023.10:g.99920596C>T , CM000685.1:g.99920596C>T | GRCh37 |
| NC_000023.9:g.99807252C>T | NCBI36 |
| NG_021337.1:g.26434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.723C>T MANE Select | ENSP00000362095.3:p.Tyr241= | |
| ENST00000638458.1:c.747C>T | ENSP00000492168.1:p.Tyr249= | |
| ENST00000638920.1:n.726C>T | ||
| ENST00000677630.1:n.657C>T | ||
| ENST00000679590.1:n.756C>T | ||
| ENST00000373004.3:c.723C>T | ENSP00000362095.3:p.Tyr241= | |
| NM_014467.2:c.723C>T | NP_055282.1:p.Tyr241= | |
| XM_005262121.2:c.723C>T | XP_005262178.1:p.Tyr241= | |
| NM_014467.3:c.723C>T MANE Select | NP_055282.1:p.Tyr241= |