Linked Data
ClinVar Variation Id:
329292
dbSNP Id:
rs367716653
gnomAD v2:
19-40914079-A-C
gnomAD v3:
19-40408172-A-C
gnomAD v4:
19-40408172-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40408172A>C , CM000681.2:g.40408172A>C | GRCh38 |
| NC_000019.9:g.40914079A>C , CM000681.1:g.40914079A>C | GRCh37 |
| NC_000019.8:g.45605919A>C | NCBI36 |
| NG_007979.1:g.10193T>G , LRG_265:g.10193T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.-114T>G MANE Select | ENSP00000326018.6:n.-114T>G | |
| ENST00000674005.2:c.172T>G | ENSP00000501261.1:p.Cys58Gly | |
| ENST00000675339.1:c.135T>G | ||
| ENST00000675369.1:n.188T>G | ||
| ENST00000675484.1:c.45-141T>G | ||
| ENST00000675511.1:n.126T>G | ||
| ENST00000676078.1:n.131T>G | ||
| ENST00000291825.11:c.-114T>G | ENSP00000291825.6:n.-114T>G | |
| ENST00000324001.7:c.-114T>G | ENSP00000326018.6:n.-114T>G | |
| ENST00000599513.1:n.72T>G | ||
| NM_020956.2:c.-114T>G , LRG_265t1:c.-114T>G | NP_066007.1:n.-114T>G | |
| NM_181882.2:c.-114T>G , LRG_265t2:c.-114T>G | NP_870998.2:n.-114T>G | |
| XM_011527171.1:c.-114T>G | XP_011525473.1:n.-114T>G | |
| XM_011527171.2:c.-114T>G | XP_011525473.1:n.-114T>G | |
| NM_181882.3:c.-114T>G MANE Select | NP_870998.2:n.-114T>G |