Linked Data
ClinVar Variation Id:
311307
ClinVar RCV Id:
RCV000390701
dbSNP Id:
rs138516703
gnomAD v2:
13-20714769-G-A
gnomAD v3:
13-20140630-G-A
gnomAD v4:
13-20140630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20140630G>A , CM000675.2:g.20140630G>A | GRCh38 |
| NC_000013.10:g.20714769G>A , CM000675.1:g.20714769G>A | GRCh37 |
| NC_000013.9:g.19612769G>A | NCBI36 |
| NG_016399.1:g.25415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241125.4:c.*1351C>T MANE Select | ENSP00000241125.3:n.*1351C>T | |
| ENST00000241125.3:c.*1351C>T | ENSP00000241125.3:n.*1351C>T | |
| NM_021954.3:c.*1351C>T | NP_068773.2:n.*1351C>T | |
| XM_005266353.1:c.*1351C>T | XP_005266410.1:n.*1351C>T | |
| XM_011535048.1:c.*1351C>T | XP_011533350.1:n.*1351C>T | |
| XM_011535048.2:c.*1351C>T | XP_011533350.1:n.*1351C>T | |
| NM_021954.4:c.*1351C>T MANE Select | NP_068773.2:n.*1351C>T |