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