Linked Data
ClinVar Variation Id:
1623526
ClinVar RCV Id:
RCV002110121
dbSNP Id:
rs781089811
ExAC:
14:51376720 G / A
gnomAD v2:
14-51376720-G-A
gnomAD v4:
14-50910002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50910002G>A , CM000676.2:g.50910002G>A | GRCh38 |
| NC_000014.8:g.51376720G>A , CM000676.1:g.51376720G>A | GRCh37 |
| NC_000014.7:g.50446470G>A | NCBI36 |
| NG_012796.1:g.39529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2070C>T MANE Select | ENSP00000216392.7:p.Ile690= | |
| ENST00000216392.7:c.2070C>T | ENSP00000216392.7:p.Ile690= | |
| ENST00000532107.2:n.243C>T | ||
| ENST00000532462.5:c.2070C>T | ENSP00000431657.1:p.Ile690= | |
| ENST00000544180.6:c.1968C>T | ENSP00000443787.1:p.Ile656= | |
| NM_001163940.1:c.1968C>T | NP_001157412.1:p.Ile656= | |
| NM_002863.4:c.2070C>T | NP_002854.3:p.Ile690= | |
| NM_002863.5:c.2070C>T MANE Select | NP_002854.3:p.Ile690= | |
| NM_001163940.2:c.1968C>T | NP_001157412.1:p.Ile656= |