Linked Data
ClinVar Variation Id:
329294
ClinVar RCV Id:
RCV000358074
dbSNP Id:
rs763423646
gnomAD v2:
19-40914125-G-A
gnomAD v3:
19-40408218-G-A
gnomAD v4:
19-40408218-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40408218G>A , CM000681.2:g.40408218G>A | GRCh38 |
| NC_000019.9:g.40914125G>A , CM000681.1:g.40914125G>A | GRCh37 |
| NC_000019.8:g.45605965G>A | NCBI36 |
| NG_007979.1:g.10147C>T , LRG_265:g.10147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.-160C>T MANE Select | ENSP00000326018.6:n.-160C>T | |
| ENST00000674005.2:c.126C>T | ENSP00000501261.1:p.Asp42= | |
| ENST00000675339.1:c.89C>T | ||
| ENST00000675369.1:n.142C>T | ||
| ENST00000675484.1:c.44+122C>T | ||
| ENST00000675511.1:n.80C>T | ||
| ENST00000676078.1:n.85C>T | ||
| ENST00000291825.11:c.-160C>T | ENSP00000291825.6:n.-160C>T | |
| ENST00000324001.7:c.-160C>T | ENSP00000326018.6:n.-160C>T | |
| ENST00000599513.1:n.26C>T | ||
| NM_020956.2:c.-160C>T , LRG_265t1:c.-160C>T | NP_066007.1:n.-160C>T | |
| NM_181882.2:c.-160C>T , LRG_265t2:c.-160C>T | NP_870998.2:n.-160C>T | |
| XM_011527171.1:c.-160C>T | XP_011525473.1:n.-160C>T | |
| XM_011527171.2:c.-160C>T | XP_011525473.1:n.-160C>T | |
| NM_181882.3:c.-160C>T MANE Select | NP_870998.2:n.-160C>T |