Linked Data
ClinVar Variation Id:
1227593
ClinVar RCV Id:
RCV001611575
dbSNP Id:
rs12329305
ExAC:
2:19552913 C / T
gnomAD v2:
2-19552913-C-T
gnomAD v3:
2-19353152-C-T
gnomAD v4:
2-19353152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19353152C>T , CM000664.2:g.19353152C>T | GRCh38 |
| NC_000002.11:g.19552913C>T , CM000664.1:g.19552913C>T | GRCh37 |
| NC_000002.10:g.19416394C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272223.3:c.654G>A MANE Select | ENSP00000272223.2:p.Leu218= | |
| ENST00000272223.2:c.654G>A | ENSP00000272223.2:p.Leu218= | |
| ENST00000487581.1:n.3761G>A | ||
| NM_145260.2:c.654G>A | NP_660303.1:p.Leu218= | |
| XM_006711942.2:c.654G>A | XP_006712005.1:p.Leu218= | |
| XM_006711942.4:c.654G>A | XP_006712005.1:p.Leu218= | |
| NM_145260.3:c.654G>A MANE Select | NP_660303.1:p.Leu218= |