Linked Data
ClinVar Variation Id:
241714
dbSNP Id:
rs371599112
gnomAD v2:
3-128200770-G-C
gnomAD v3:
3-128481927-G-C
gnomAD v4:
3-128481927-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481927G>C , CM000665.2:g.128481927G>C | GRCh38 |
| NC_000003.11:g.128200770G>C , CM000665.1:g.128200770G>C | GRCh37 |
| NC_000003.10:g.129683460G>C | NCBI36 |
| NG_029334.1:g.16261C>G , LRG_295:g.16261C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.1035C>G MANE Plus Clinical | ENSP00000417074.1:p.Ala345= | |
| ENST00000696466.1:c.1317C>G | ENSP00000512647.1:p.Ala439= | |
| ENST00000696672.1:c.18C>G | ENSP00000512796.1:p.Ala6= | |
| ENST00000341105.7:c.1035C>G MANE Select | ENSP00000345681.2:p.Ala345= | |
| ENST00000341105.6:c.1035C>G | ENSP00000345681.2:p.Ala345= | |
| ENST00000430265.6:c.1018-25C>G | ENSP00000400259.2:n.1018-25C>G | |
| ENST00000487848.5:c.1035C>G | ENSP00000417074.1:p.Ala345= | |
| ENST00000489987.1:n.152C>G | ||
| NM_001145661.1:c.1035C>G , LRG_295t1:c.1035C>G | NP_001139133.1:p.Ala345= | |
| NM_001145662.1:c.1018-25C>G | NP_001139134.1:n.1018-25C>G | |
| NM_032638.4:c.1035C>G , LRG_295t2:c.1035C>G | NP_116027.2:p.Ala345= | |
| NM_001145661.2:c.1035C>G MANE Plus Clinical | NP_001139133.1:p.Ala345= | |
| NM_032638.5:c.1035C>G MANE Select | NP_116027.2:p.Ala345= |