Linked Data
ClinVar Variation Id:
333328
dbSNP Id:
rs886055394
gnomAD v2:
2-20110571-C-A
gnomAD v3:
2-19910810-C-A
gnomAD v4:
2-19910810-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19910810C>A , CM000664.2:g.19910810C>A | GRCh38 |
| NC_000002.11:g.20110571C>A , CM000664.1:g.20110571C>A | GRCh37 |
| NC_000002.10:g.19974052C>A | NCBI36 |
| NG_021212.1:g.84314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.*2748G>T MANE Select | ENSP00000281405.5:n.*2748G>T | |
| ENST00000345530.8:c.*2748G>T MANE Plus Clinical | ENSP00000314444.5:n.*2748G>T | |
| ENST00000281405.8:c.*2748G>T | ENSP00000281405.4:n.*2748G>T | |
| ENST00000345530.7:c.*2748G>T | ENSP00000314444.5:n.*2748G>T | |
| NM_001006657.1:c.*2748G>T | NP_001006658.1:n.*2748G>T | |
| NM_020779.3:c.*2748G>T | NP_065830.2:n.*2748G>T | |
| XM_011533007.1:c.*2748G>T | XP_011531309.1:n.*2748G>T | |
| XM_011533007.2:c.*2748G>T | XP_011531309.1:n.*2748G>T | |
| XR_426989.3:n.6194G>T | ||
| NM_001006657.2:c.*2748G>T MANE Plus Clinical | NP_001006658.1:n.*2748G>T | |
| NM_020779.4:c.*2748G>T MANE Select | NP_065830.2:n.*2748G>T |