Linked Data
dbSNP Id:
rs186588194
ExAC:
16:3293135 G / A
gnomAD v3:
16-3243135-G-A
gnomAD v4:
16-3243135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243135G>A , CM000678.2:g.3243135G>A | GRCh38 |
| NC_000016.9:g.3293135G>A , CM000678.1:g.3293135G>A | GRCh37 |
| NC_000016.8:g.3233136G>A | NCBI36 |
| NG_007871.1:g.18493C>T , LRG_190:g.18493C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1473C>T | ||
| ENST00000219596.6:c.*6C>T MANE Select | ENSP00000219596.1:n.*6C>T | |
| ENST00000219596.5:c.*6C>T | ENSP00000219596.1:n.*6C>T | |
| ENST00000339854.8:c.*6C>T | ENSP00000339639.4:n.*6C>T | |
| ENST00000536980.5:c.*628C>T | ENSP00000444178.1:n.*628C>T | |
| ENST00000537682.5:c.*628C>T | ENSP00000438611.1:n.*628C>T | |
| ENST00000538326.5:c.*977C>T | ENSP00000437486.1:n.*977C>T | |
| ENST00000542898.5:c.*628C>T | ENSP00000444615.1:n.*628C>T | |
| NM_000243.2:c.*6C>T , LRG_190t1:c.*6C>T | NP_000234.1:n.*6C>T | |
| NM_001198536.1:c.*556C>T | NP_001185465.1:n.*556C>T | |
| XM_017023236.2:c.*6C>T | XP_016878725.1:n.*6C>T | |
| NM_000243.3:c.*6C>T MANE Select | NP_000234.1:n.*6C>T | |
| NM_001198536.2:c.*556C>T | NP_001185465.2:n.*556C>T |