Linked Data
ClinVar Variation Id:
329255
dbSNP Id:
rs139950446
ExAC:
19:40900557 G / A
gnomAD v2:
19-40900557-G-A
gnomAD v3:
19-40394650-G-A
gnomAD v4:
19-40394650-G-A
COSMIC:
COSM404267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394650G>A , CM000681.2:g.40394650G>A | GRCh38 |
| NC_000019.9:g.40900557G>A , CM000681.1:g.40900557G>A | GRCh37 |
| NC_000019.8:g.45592397G>A | NCBI36 |
| NG_007979.1:g.23715C>T , LRG_265:g.23715C>T | |
| NG_051224.1:g.572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3702C>T MANE Select | ENSP00000326018.6:p.Gly1234= | |
| ENST00000673881.1:c.3285C>T | ENSP00000501070.1:p.Gly1095= | |
| ENST00000674005.2:c.3987C>T | ENSP00000501261.1:p.Gly1329= | |
| ENST00000674773.1:c.3285C>T | ENSP00000502579.1:p.Gly1095= | |
| ENST00000675517.1:c.3577C>T | ||
| ENST00000676076.1:c.3563C>T | ||
| ENST00000676260.1:c.3664C>T | ||
| ENST00000676316.1:c.3589C>T | ||
| ENST00000291825.11:c.*3907C>T | ENSP00000291825.6:n.*3907C>T | |
| ENST00000324001.7:c.3702C>T | ENSP00000326018.6:p.Gly1234= | |
| NM_020956.2:c.*3907C>T , LRG_265t1:c.*3907C>T | NP_066007.1:n.*3907C>T | |
| NM_181882.2:c.3702C>T , LRG_265t2:c.3702C>T | NP_870998.2:p.Gly1234= | |
| XM_011527171.1:c.3702C>T | XP_011525473.1:p.Gly1234= | |
| XM_011527171.2:c.3702C>T | XP_011525473.1:p.Gly1234= | |
| XM_017027046.1:c.3600C>T | XP_016882535.1:p.Gly1200= | |
| XM_017027047.1:c.3600C>T | XP_016882536.1:p.Gly1200= | |
| NM_181882.3:c.3702C>T MANE Select | NP_870998.2:p.Gly1234= |