Linked Data
ClinVar Variation Id:
317771
ClinVar RCV Id:
RCV000361277
dbSNP Id:
rs192516633
gnomAD v2:
16-11643040-G-T
gnomAD v3:
16-11549184-G-T
gnomAD v4:
16-11549184-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11549184G>T , CM000678.2:g.11549184G>T | GRCh38 |
| NC_000016.9:g.11643040G>T , CM000678.1:g.11643040G>T | GRCh37 |
| NC_000016.8:g.11550541G>T | NCBI36 |
| NG_009008.1:g.42767C>A , LRG_253:g.42767C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622633.5:c.*453C>A MANE Select | ENSP00000483114.1:n.*453C>A | |
| ENST00000339430.9:c.*453C>A | ENSP00000340118.5:n.*453C>A | |
| ENST00000381810.7:c.*253C>A | ENSP00000371231.3:n.*253C>A | |
| ENST00000413364.6:c.*578C>A | ENSP00000397958.2:n.*578C>A | |
| ENST00000570904.5:c.*453C>A | ENSP00000459138.1:n.*453C>A | |
| ENST00000571688.5:c.*453C>A | ENSP00000459533.1:n.*453C>A | |
| ENST00000622633.4:c.*453C>A | ENSP00000483114.1:n.*453C>A | |
| NM_001136472.1:c.*453C>A | NP_001129944.1:n.*453C>A | |
| NM_001136473.1:c.*578C>A , LRG_253t1:c.*578C>A | NP_001129945.1:n.*578C>A | |
| NM_004862.3:c.*453C>A | NP_004853.2:n.*453C>A | |
| NR_024320.1:n.1073C>A | ||
| XM_006720982.2:c.*453C>A | XP_006721045.1:n.*453C>A | |
| XM_006720983.2:c.*453C>A | XP_006721046.1:n.*453C>A | |
| XM_006720984.2:c.*453C>A | XP_006721047.1:n.*453C>A | |
| XM_006720985.2:c.*453C>A | XP_006721048.1:n.*453C>A | |
| XM_011522754.1:c.*453C>A | XP_011521056.1:n.*453C>A | |
| XM_006720982.3:c.*453C>A | XP_006721045.1:n.*453C>A | |
| XM_006720983.4:c.*453C>A | XP_006721046.1:n.*453C>A | |
| XM_006720984.4:c.*453C>A | XP_006721047.1:n.*453C>A | |
| XM_006720985.3:c.*453C>A | XP_006721048.1:n.*453C>A | |
| XM_011522754.3:c.*453C>A | XP_011521056.1:n.*453C>A | |
| XM_017023896.1:c.*453C>A | XP_016879385.1:n.*453C>A | |
| NM_001136472.2:c.*453C>A MANE Select | NP_001129944.1:n.*453C>A | |
| NM_004862.4:c.*453C>A | NP_004853.2:n.*453C>A | |
| NR_024320.2:n.1073C>A |