Linked Data
dbSNP Id:
rs749442013
gnomAD v2:
13-31033154-G-A
gnomAD v3:
13-30459017-G-A
gnomAD v4:
13-30459017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30459017G>A , CM000675.2:g.30459017G>A | GRCh38 |
| NC_000013.10:g.31033154G>A , CM000675.1:g.31033154G>A | GRCh37 |
| NC_000013.9:g.29931154G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341423.10:c.*2340C>T MANE Select | ENSP00000345347.5:n.*2340C>T | |
| ENST00000341423.9:c.*2340C>T | ENSP00000345347.5:n.*2340C>T | |
| ENST00000405805.5:c.*2340C>T | ENSP00000384678.1:n.*2340C>T | |
| NM_001313892.1:c.*2340C>T | NP_001300821.1:n.*2340C>T | |
| NM_001313893.1:c.*2340C>T | NP_001300822.1:n.*2340C>T | |
| NM_002128.4:c.*2340C>T | NP_002119.1:n.*2340C>T | |
| NM_002128.5:c.*2340C>T | NP_002119.1:n.*2340C>T | |
| NM_001363661.1:c.*2561C>T | NP_001350590.1:n.*2561C>T | |
| NM_002128.6:c.*2340C>T | NP_002119.1:n.*2340C>T | |
| NM_002128.7:c.*2340C>T MANE Select | NP_002119.1:n.*2340C>T | |
| NM_001370339.1:c.*2666C>T | NP_001357268.1:n.*2666C>T | |
| NM_001370340.1:c.*2340C>T | NP_001357269.1:n.*2340C>T | |
| NM_001370341.1:c.*2340C>T | NP_001357270.1:n.*2340C>T | |
| NM_001313892.2:c.*2340C>T | NP_001300821.1:n.*2340C>T | |
| NM_001363661.2:c.*2561C>T | NP_001350590.1:n.*2561C>T |