Linked Data
ClinVar Variation Id:
331769
ClinVar RCV Id:
RCV000321094
dbSNP Id:
rs886055009
gnomAD v4:
2-165747844-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165747844G>A , CM000664.2:g.165747844G>A | GRCh38 |
| NC_000002.11:g.166604354G>A , CM000664.1:g.166604354G>A | GRCh37 |
| NC_000002.10:g.166312600G>A | NCBI36 |
| NG_012069.1:g.51450C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392701.8:c.*937C>T MANE Select | ENSP00000376465.3:n.*937C>T | |
| ENST00000392701.7:c.*937C>T | ENSP00000376465.3:n.*937C>T | |
| ENST00000409882.5:c.*937C>T | ENSP00000386955.1:n.*937C>T | |
| NM_004482.3:c.*937C>T | NP_004473.2:n.*937C>T | |
| XM_005246449.1:c.*937C>T | XP_005246506.1:n.*937C>T | |
| XM_011510929.1:c.*937C>T | XP_011509231.1:n.*937C>T | |
| XM_017003770.1:c.*937C>T | XP_016859259.1:n.*937C>T | |
| NM_004482.4:c.*937C>T MANE Select | NP_004473.2:n.*937C>T |