Linked Data
ClinVar Variation Id:
7795
ClinVar RCV Id:
RCV000008238
dbSNP Id:
rs137853087
gnomAD v2:
2-166606257-G-A
gnomAD v3:
2-165749747-G-A
gnomAD v4:
2-165749747-G-A
PubMed:
PMID:16528452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165749747G>A , CM000664.2:g.165749747G>A | GRCh38 |
| NC_000002.11:g.166606257G>A , CM000664.1:g.166606257G>A | GRCh37 |
| NC_000002.10:g.166314503G>A | NCBI36 |
| NG_012069.1:g.49547C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392701.8:c.1774C>T MANE Select | ENSP00000376465.3:p.Gln592Ter | |
| ENST00000392701.7:c.1774C>T | ENSP00000376465.3:p.Gln592Ter | |
| ENST00000409882.5:c.988C>T | ENSP00000386955.1:p.Gln330Ter | |
| NM_004482.3:c.1774C>T | NP_004473.2:p.Gln592Ter | |
| XM_005246449.1:c.1774C>T | XP_005246506.1:p.Gln592Ter | |
| XM_011510929.1:c.1774C>T | XP_011509231.1:p.Gln592Ter | |
| XM_017003770.1:c.1774C>T | XP_016859259.1:p.Gln592Ter | |
| NM_004482.4:c.1774C>T MANE Select | NP_004473.2:p.Gln592Ter |