Linked Data
dbSNP Id:
rs121908055
gnomAD v4:
16-67942967-G-A
MyVariant Identifiers:
chr16:g.67976870G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942967G>A , CM000678.2:g.67942967G>A | GRCh38 |
| NC_000016.9:g.67976870G>A , CM000678.1:g.67976870G>A | GRCh37 |
| NC_000016.8:g.66534371G>A | NCBI36 |
| NG_009778.1:g.6146C>T | |
| NG_033098.1:g.30728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.321C>T MANE Select | ENSP00000264005.5:p.Tyr107= | |
| ENST00000264005.9:c.321C>T | ENSP00000264005.5:p.Tyr107= | |
| ENST00000570369.5:c.49C>T | ||
| ENST00000570980.1:c.105C>T | ENSP00000464651.1:p.Tyr35= | |
| ENST00000575277.1:n.99C>T | ||
| ENST00000575467.5:c.*16C>T | ENSP00000460653.1:n.*16C>T | |
| NM_000229.1:c.321C>T | NP_000220.1:p.Tyr107= | |
| NM_000229.2:c.321C>T MANE Select | NP_000220.1:p.Tyr107= |