Linked Data
ClinVar Variation Id:
1154173
ClinVar RCV Id:
RCV001496061
dbSNP Id:
rs544567546
ExAC:
19:12758093 G / A
gnomAD v2:
19-12758093-G-A
gnomAD v4:
19-12647279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647279G>A , CM000681.2:g.12647279G>A | GRCh38 |
| NC_000019.9:g.12758093G>A , CM000681.1:g.12758093G>A | GRCh37 |
| NC_000019.8:g.12619093G>A | NCBI36 |
| NG_008318.1:g.24499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2877C>T MANE Select | ENSP00000395473.2:p.Asn959= | |
| ENST00000221363.8:c.2874C>T | ENSP00000221363.4:p.Asn958= | |
| ENST00000456935.6:c.2877C>T | ENSP00000395473.2:p.Asn959= | |
| ENST00000466794.5:n.3467C>T | ||
| ENST00000469423.1:n.306C>T | ||
| ENST00000493218.5:n.288C>T | ||
| ENST00000597692.1:c.436C>T | ||
| NM_000528.3:c.2877C>T | NP_000519.2:p.Asn959= | |
| NM_001173498.1:c.2874C>T | NP_001166969.1:p.Asn958= | |
| XM_005259913.1:c.2880C>T | XP_005259970.1:p.Asn960= | |
| XM_011528017.1:c.1776C>T | XP_011526319.1:p.Asn592= | |
| XM_005259913.2:c.2880C>T | XP_005259970.1:p.Asn960= | |
| XM_024451518.1:c.1776C>T | XP_024307286.1:p.Asn592= | |
| NM_000528.4:c.2877C>T MANE Select | NP_000519.2:p.Asn959= | |
| NM_001173498.2:c.2874C>T | NP_001166969.1:p.Asn958= |