Linked Data
ClinVar Variation Id:
742280
ClinVar RCV Id:
RCV000918517
dbSNP Id:
rs1162823369
gnomAD v2:
6-32149399-C-T
gnomAD v4:
6-32181622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181622C>T , CM000668.2:g.32181622C>T | GRCh38 |
| NC_000006.11:g.32149399C>T , CM000668.1:g.32149399C>T | GRCh37 |
| NC_000006.10:g.32257377C>T | NCBI36 |
| NG_029868.1:g.7701G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.975G>A MANE Select | ENSP00000364217.4:p.Glu325= | |
| ENST00000375055.6:c.975G>A | ENSP00000364195.2:p.Glu325= | |
| ENST00000375065.6:c.162G>A | ENSP00000364206.6:p.Glu54= | |
| ENST00000375067.7:c.820G>A | ENSP00000364208.3:p.Gly274Arg | |
| ENST00000375069.7:c.1023G>A | ENSP00000364210.4:p.Glu341= | |
| ENST00000375070.7:c.662-145G>A | ENSP00000364211.4:n.662-145G>A | |
| ENST00000375076.8:c.975G>A | ENSP00000364217.4:p.Glu325= | |
| ENST00000438221.6:c.1023G>A | ENSP00000387887.2:p.Glu341= | |
| ENST00000469940.5:n.14G>A | ||
| ENST00000473619.5:n.517G>A | ||
| ENST00000484849.5:n.1182G>A | ||
| ENST00000488669.5:n.517G>A | ||
| ENST00000620802.4:c.283-189G>A | ENSP00000484081.1:n.283-189G>A | |
| NM_001136.4:c.975G>A | NP_001127.1:p.Glu325= | |
| NM_001206929.1:c.1023G>A | NP_001193858.1:p.Glu341= | |
| NM_001206932.1:c.933G>A | NP_001193861.1:p.Glu311= | |
| NM_001206934.1:c.1023G>A | NP_001193863.1:p.Glu341= | |
| NM_001206936.1:c.923G>A | NP_001193865.1:p.Arg308Lys | |
| NM_001206940.1:c.975G>A | NP_001193869.1:p.Glu325= | |
| NM_001206954.1:c.833G>A | NP_001193883.1:p.Arg278Lys | |
| NM_001206966.1:c.975G>A | NP_001193895.1:p.Glu325= | |
| NM_172197.2:c.820G>A | NP_751947.1:p.Gly274Arg | |
| NR_038190.1:n.1258G>A | ||
| XM_017010328.2:c.974G>A | XP_016865817.1:p.Arg325Lys | |
| XR_001743189.2:n.1039G>A | ||
| XR_001743190.2:n.991G>A | ||
| NM_001136.5:c.975G>A MANE Select | NP_001127.1:p.Glu325= | |
| NM_001206932.2:c.933G>A | NP_001193861.1:p.Glu311= | |
| NM_001206936.2:c.923G>A | NP_001193865.1:p.Arg308Lys | |
| NM_001206940.2:c.975G>A | NP_001193869.1:p.Glu325= | |
| NM_001206954.2:c.833G>A | NP_001193883.1:p.Arg278Lys | |
| NM_001206966.2:c.975G>A | NP_001193895.1:p.Glu325= | |
| NM_172197.3:c.820G>A | NP_751947.1:p.Gly274Arg | |
| NR_038190.2:n.1189G>A | ||
| NM_001206929.2:c.1023G>A | NP_001193858.1:p.Glu341= | |
| NM_001206934.2:c.1023G>A | NP_001193863.1:p.Glu341= |