Linked Data
dbSNP Id:
rs1598204289
gnomAD v4:
16-67942874-G-A
MyVariant Identifiers:
chr16:g.67976777G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942874G>A , CM000678.2:g.67942874G>A | GRCh38 |
| NC_000016.9:g.67976777G>A , CM000678.1:g.67976777G>A | GRCh37 |
| NC_000016.8:g.66534278G>A | NCBI36 |
| NG_009778.1:g.6239C>T | |
| NG_033098.1:g.30821C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.414C>T MANE Select | ENSP00000264005.5:p.Ser138= | |
| ENST00000264005.9:c.414C>T | ENSP00000264005.5:p.Ser138= | |
| ENST00000570369.5:c.142C>T | ||
| ENST00000570980.1:c.198C>T | ENSP00000464651.1:p.Ser66= | |
| ENST00000573538.5:c.57C>T | ENSP00000463220.1:p.Ser19= | |
| ENST00000573846.1:n.28C>T | ||
| ENST00000575277.1:n.192C>T | ||
| ENST00000575467.5:c.*109C>T | ENSP00000460653.1:n.*109C>T | |
| NM_000229.1:c.414C>T | NP_000220.1:p.Ser138= | |
| NM_000229.2:c.414C>T MANE Select | NP_000220.1:p.Ser138= |