Linked Data
ClinVar Variation Id:
1118919
ClinVar RCV Id:
RCV001448183
dbSNP Id:
rs576723592
ExAC:
14:74726445 C / T
gnomAD v2:
14-74726445-C-T
gnomAD v3:
14-74259742-C-T
gnomAD v4:
14-74259742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259742C>T , CM000676.2:g.74259742C>T | GRCh38 |
| NC_000014.8:g.74726445C>T , CM000676.1:g.74726445C>T | GRCh37 |
| NC_000014.7:g.73796198C>T | NCBI36 |
| NG_013092.1:g.25271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.720C>T MANE Select | ENSP00000261980.2:p.Ala240= | |
| ENST00000261980.2:c.720C>T | ENSP00000261980.2:p.Ala240= | |
| NM_182894.2:c.720C>T | NP_878314.1:p.Ala240= | |
| XM_011536719.1:c.720C>T | XP_011535021.1:p.Ala240= | |
| NM_182894.3:c.720C>T MANE Select | NP_878314.1:p.Ala240= |