Linked Data
ClinVar Variation Id:
99101
ClinVar RCV Id:
RCV000085445
RCV000174470
RCV000260757
RCV000318324
RCV000356519
RCV000353201
RCV001075850
RCV001098279
RCV000986369
dbSNP Id:
rs61749417
ExAC:
1:94528143 C / T
gnomAD v2:
1-94528143-C-T
gnomAD v3:
1-94062587-C-T
gnomAD v4:
1-94062587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062587C>T , CM000663.2:g.94062587C>T | GRCh38 |
| NC_000001.10:g.94528143C>T , CM000663.1:g.94528143C>T | GRCh37 |
| NC_000001.9:g.94300731C>T | NCBI36 |
| NG_009073.1:g.63563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1927G>A MANE Select | ENSP00000359245.3:p.Val643Met | |
| ENST00000649773.1:c.1927G>A | ENSP00000496882.1:p.Val643Met | |
| ENST00000370225.3:c.1927G>A | ENSP00000359245.3:p.Val643Met | |
| ENST00000536513.5:c.-65+587G>A | ENSP00000439707.2:n.-65+587G>A | |
| NM_000350.2:c.1927G>A | NP_000341.2:p.Val643Met | |
| NM_000350.3:c.1927G>A MANE Select | NP_000341.2:p.Val643Met |