Linked Data
dbSNP Id:
rs746289340
ExAC:
19:12758228 G / A
gnomAD v2:
19-12758228-G-A
gnomAD v4:
19-12647414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647414G>A , CM000681.2:g.12647414G>A | GRCh38 |
| NC_000019.9:g.12758228G>A , CM000681.1:g.12758228G>A | GRCh37 |
| NC_000019.8:g.12619228G>A | NCBI36 |
| NG_008318.1:g.24364C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2820+29C>T MANE Select | ENSP00000395473.2:n.2820+29C>T | |
| ENST00000221363.8:c.2817+29C>T | ENSP00000221363.4:n.2817+29C>T | |
| ENST00000456935.6:c.2820+29C>T | ENSP00000395473.2:n.2820+29C>T | |
| ENST00000466794.5:n.3410+29C>T | ||
| ENST00000469423.1:n.171C>T | ||
| ENST00000493218.5:n.231+29C>T | ||
| ENST00000597692.1:c.379+29C>T | ||
| NM_000528.3:c.2820+29C>T | NP_000519.2:n.2820+29C>T | |
| NM_001173498.1:c.2817+29C>T | NP_001166969.1:n.2817+29C>T | |
| XM_005259913.1:c.2823+29C>T | XP_005259970.1:n.2823+29C>T | |
| XM_011528017.1:c.1719+29C>T | XP_011526319.1:n.1719+29C>T | |
| XM_005259913.2:c.2823+29C>T | XP_005259970.1:n.2823+29C>T | |
| XM_024451518.1:c.1719+29C>T | XP_024307286.1:n.1719+29C>T | |
| NM_000528.4:c.2820+29C>T MANE Select | NP_000519.2:n.2820+29C>T | |
| NM_001173498.2:c.2817+29C>T | NP_001166969.1:n.2817+29C>T |