Linked Data
ClinVar Variation Id:
262568
dbSNP Id:
rs3204635
ExAC:
12:57637593 G / A
gnomAD v2:
12-57637593-G-A
gnomAD v3:
12-57243810-G-A
gnomAD v4:
12-57243810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57243810G>A , CM000674.2:g.57243810G>A | GRCh38 |
| NC_000012.11:g.57637593G>A , CM000674.1:g.57637593G>A | GRCh37 |
| NC_000012.10:g.55923860G>A | NCBI36 |
| NG_033835.1:g.12384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332782.7:c.*2C>T MANE Select | ENSP00000329200.2:n.*2C>T | |
| ENST00000332782.6:c.*2C>T | ENSP00000329200.2:n.*2C>T | |
| ENST00000546246.2:c.*2C>T | ENSP00000441515.2:n.*2C>T | |
| ENST00000554578.5:c.*2C>T | ENSP00000452068.1:n.*2C>T | |
| ENST00000557176.5:c.*157C>T | ENSP00000450740.1:n.*157C>T | |
| NM_001286256.1:c.*2C>T | NP_001273185.1:n.*2C>T | |
| NM_001286257.1:c.*2C>T | NP_001273186.1:n.*2C>T | |
| NM_145064.2:c.*2C>T | NP_659501.1:n.*2C>T | |
| NR_104422.1:n.799C>T | ||
| XM_011538126.1:c.*2C>T | XP_011536428.1:n.*2C>T | |
| XR_944515.1:n.1226C>T | ||
| XM_011538126.2:c.*2C>T | XP_011536428.1:n.*2C>T | |
| XR_002957305.1:n.1396C>T | ||
| XR_944515.2:n.1226C>T | ||
| NM_145064.3:c.*2C>T MANE Select | NP_659501.1:n.*2C>T | |
| NM_001286256.2:c.*2C>T | NP_001273185.1:n.*2C>T | |
| NM_001286257.2:c.*2C>T | NP_001273186.1:n.*2C>T | |
| NR_104422.2:n.793C>T |