Linked Data
ClinVar Variation Id:
348960
dbSNP Id:
rs376694515
gnomAD v2:
4-55604975-G-T
gnomAD v3:
4-54738809-G-T
gnomAD v4:
4-54738809-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54738809G>T , CM000666.2:g.54738809G>T | GRCh38 |
| NC_000004.11:g.55604975G>T , CM000666.1:g.55604975G>T | GRCh37 |
| NC_000004.10:g.55299732G>T | NCBI36 |
| NG_007456.1:g.85815G>T , LRG_307:g.85815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.*252G>T | ENSP00000390987.3:n.*252G>T | |
| ENST00000684818.1:n.1875G>T | ||
| ENST00000685269.1:n.3261G>T | ||
| ENST00000686011.1:c.*252G>T | ENSP00000509704.1:n.*252G>T | |
| ENST00000687109.1:c.*252G>T | ENSP00000509371.1:n.*252G>T | |
| ENST00000687208.1:n.3595G>T | ||
| ENST00000687246.1:c.*252G>T | ENSP00000509114.1:n.*252G>T | |
| ENST00000687265.1:n.3341G>T | ||
| ENST00000687295.1:c.*252G>T | ENSP00000509450.1:n.*252G>T | |
| ENST00000688060.1:n.980G>T | ||
| ENST00000689832.1:c.*252G>T | ENSP00000509084.1:n.*252G>T | |
| ENST00000689994.1:c.*252G>T | ENSP00000509156.1:n.*252G>T | |
| ENST00000690543.1:c.*252G>T | ENSP00000508831.1:n.*252G>T | |
| ENST00000690917.1:n.3401G>T | ||
| ENST00000691361.1:n.2093G>T | ||
| ENST00000692783.1:c.*252G>T | ENSP00000508733.1:n.*252G>T | |
| ENST00000692991.1:n.3280G>T | ||
| ENST00000288135.6:c.*252G>T MANE Select | ENSP00000288135.6:n.*252G>T | |
| ENST00000288135.5:c.*252G>T | ENSP00000288135.5:n.*252G>T | |
| ENST00000412167.6:c.*252G>T | ENSP00000390987.2:n.*252G>T | |
| NM_000222.2:c.*252G>T , LRG_307t1:c.*252G>T | NP_000213.1:n.*252G>T | |
| NM_001093772.1:c.*252G>T | NP_001087241.1:n.*252G>T | |
| XM_005265740.1:c.*252G>T | XP_005265797.1:n.*252G>T | |
| XM_005265741.1:c.*252G>T | XP_005265798.1:n.*252G>T | |
| XM_005265742.1:c.*252G>T | XP_005265799.1:n.*252G>T | |
| XM_005265742.3:c.*252G>T | XP_005265799.1:n.*252G>T | |
| XM_017008178.1:c.*252G>T | XP_016863667.1:n.*252G>T | |
| XM_017008179.1:c.*252G>T | XP_016863668.1:n.*252G>T | |
| XM_017008180.1:c.*252G>T | XP_016863669.1:n.*252G>T | |
| NM_000222.3:c.*252G>T MANE Select | NP_000213.1:n.*252G>T | |
| NM_001093772.2:c.*252G>T | NP_001087241.1:n.*252G>T | |
| NM_001385284.1:c.*252G>T | NP_001372213.1:n.*252G>T | |
| NM_001385285.1:c.*252G>T | NP_001372214.1:n.*252G>T | |
| NM_001385286.1:c.*252G>T | NP_001372215.1:n.*252G>T | |
| NM_001385288.1:c.*252G>T | NP_001372217.1:n.*252G>T | |
| NM_001385290.1:c.*252G>T | NP_001372219.1:n.*252G>T | |
| NM_001385292.1:c.*252G>T | NP_001372221.1:n.*252G>T |