Linked Data
ClinVar Variation Id:
317756
ClinVar RCV Id:
RCV000321665
dbSNP Id:
rs80119580
ExAC:
16:11642078 G / T
gnomAD v2:
16-11642078-G-T
gnomAD v3:
16-11548222-G-T
gnomAD v4:
16-11548222-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11548222G>T , CM000678.2:g.11548222G>T | GRCh38 |
| NC_000016.9:g.11642078G>T , CM000678.1:g.11642078G>T | GRCh37 |
| NC_000016.8:g.11549579G>T | NCBI36 |
| NG_009008.1:g.43729C>A , LRG_253:g.43729C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622633.5:c.*1415C>A MANE Select | ENSP00000483114.1:n.*1415C>A | |
| ENST00000339430.9:c.*1415C>A | ENSP00000340118.5:n.*1415C>A | |
| ENST00000413364.6:c.*1540C>A | ENSP00000397958.2:n.*1540C>A | |
| ENST00000571688.5:c.*1415C>A | ENSP00000459533.1:n.*1415C>A | |
| ENST00000622633.4:c.*1415C>A | ENSP00000483114.1:n.*1415C>A | |
| NM_001136472.1:c.*1415C>A | NP_001129944.1:n.*1415C>A | |
| NM_001136473.1:c.*1540C>A , LRG_253t1:c.*1540C>A | NP_001129945.1:n.*1540C>A | |
| NM_004862.3:c.*1415C>A | NP_004853.2:n.*1415C>A | |
| NR_024320.1:n.2035C>A | ||
| XM_006720982.2:c.*1415C>A | XP_006721045.1:n.*1415C>A | |
| XM_006720983.2:c.*1415C>A | XP_006721046.1:n.*1415C>A | |
| XM_006720984.2:c.*1415C>A | XP_006721047.1:n.*1415C>A | |
| XM_006720985.2:c.*1415C>A | XP_006721048.1:n.*1415C>A | |
| XM_011522754.1:c.*1415C>A | XP_011521056.1:n.*1415C>A | |
| XM_006720982.3:c.*1415C>A | XP_006721045.1:n.*1415C>A | |
| XM_006720983.4:c.*1415C>A | XP_006721046.1:n.*1415C>A | |
| XM_006720984.4:c.*1415C>A | XP_006721047.1:n.*1415C>A | |
| XM_006720985.3:c.*1415C>A | XP_006721048.1:n.*1415C>A | |
| XM_011522754.3:c.*1415C>A | XP_011521056.1:n.*1415C>A | |
| XM_017023896.1:c.*1415C>A | XP_016879385.1:n.*1415C>A | |
| NM_001136472.2:c.*1415C>A MANE Select | NP_001129944.1:n.*1415C>A | |
| NM_004862.4:c.*1415C>A | NP_004853.2:n.*1415C>A | |
| NR_024320.2:n.2035C>A |