Linked Data
dbSNP Id:
rs1478430052
gnomAD v2:
16-88786122-G-A
gnomAD v3:
16-88719714-G-A
gnomAD v4:
16-88719714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719714G>A , CM000678.2:g.88719714G>A | GRCh38 |
| NC_000016.9:g.88786122G>A , CM000678.1:g.88786122G>A | GRCh37 |
| NC_000016.8:g.87313623G>A | NCBI36 |
| NG_042229.1:g.70507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6331C>T MANE Select | ENSP00000301015.9:p.Leu2111= | |
| ENST00000466823.3:c.357C>T | ||
| ENST00000301015.13:c.6331C>T | ENSP00000301015.9:p.Leu2111= | |
| ENST00000419505.5:c.97C>T | ENSP00000406358.1:p.Leu33= | |
| ENST00000466823.2:c.357C>T | ||
| ENST00000495568.7:n.572C>T | ||
| ENST00000497793.2:n.486C>T | ||
| NM_001142864.2:c.6331C>T | NP_001136336.2:p.Leu2111= | |
| NM_001142864.3:c.6331C>T | NP_001136336.2:p.Leu2111= | |
| NM_001142864.4:c.6331C>T MANE Select | NP_001136336.2:p.Leu2111= |