Linked Data
ClinVar Variation Id:
320201
dbSNP Id:
rs556480808
ExAC:
16:67977111 G / A
gnomAD v2:
16-67977111-G-A
gnomAD v3:
16-67943208-G-A
gnomAD v4:
16-67943208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67943208G>A , CM000678.2:g.67943208G>A | GRCh38 |
| NC_000016.9:g.67977111G>A , CM000678.1:g.67977111G>A | GRCh37 |
| NC_000016.8:g.66534612G>A | NCBI36 |
| NG_009778.1:g.5905C>T | |
| NG_033098.1:g.30487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.159C>T MANE Select | ENSP00000264005.5:p.Pro53= | |
| ENST00000264005.9:c.159C>T | ENSP00000264005.5:p.Pro53= | |
| ENST00000570980.1:c.-58C>T | ENSP00000464651.1:n.-58C>T | |
| ENST00000575467.5:c.155-19C>T | ENSP00000460653.1:n.155-19C>T | |
| NM_000229.1:c.159C>T | NP_000220.1:p.Pro53= | |
| NM_000229.2:c.159C>T MANE Select | NP_000220.1:p.Pro53= |