Linked Data
dbSNP Id:
rs997406669
gnomAD v2:
1-98156719-G-A
gnomAD v3:
1-97691163-G-A
gnomAD v4:
1-97691163-G-A
COSMIC:
COSN22727471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691163G>A , CM000663.2:g.97691163G>A | GRCh38 |
| NC_000001.10:g.98156719G>A , CM000663.1:g.98156719G>A | GRCh37 |
| NC_000001.9:g.97929307G>A | NCBI36 |
| NG_008807.2:g.234897C>T , LRG_722:g.234897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.762+554C>T MANE Select | ENSP00000359211.3:n.762+554C>T | |
| ENST00000370192.7:c.762+554C>T | ENSP00000359211.3:n.762+554C>T | |
| NM_000110.3:c.762+554C>T , LRG_722t1:c.762+554C>T | NP_000101.2:n.762+554C>T | |
| XM_005270562.3:c.762+554C>T | XP_005270619.2:n.762+554C>T | |
| XM_006710397.2:c.762+554C>T | XP_006710460.1:n.762+554C>T | |
| XM_006710397.3:c.762+554C>T | XP_006710460.1:n.762+554C>T | |
| XM_017000507.1:c.651+554C>T | XP_016855996.1:n.651+554C>T | |
| XM_017000508.2:c.267+554C>T | XP_016855997.1:n.267+554C>T | |
| XM_017000509.2:c.267+554C>T | XP_016855998.1:n.267+554C>T | |
| XM_017000510.1:c.267+554C>T | XP_016855999.1:n.267+554C>T | |
| NM_000110.4:c.762+554C>T MANE Select | NP_000101.2:n.762+554C>T |