Linked Data
ClinVar Variation Id:
365505
dbSNP Id:
rs554637460
gnomAD v2:
9-135771343-A-C
gnomAD v3:
9-132895956-A-C
gnomAD v4:
9-132895956-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132895956A>C , CM000671.2:g.132895956A>C | GRCh38 |
| NC_000009.11:g.135771343A>C , CM000671.1:g.135771343A>C | GRCh37 |
| NC_000009.10:g.134761164A>C | NCBI36 |
| NG_012386.1:g.53678T>G , LRG_486:g.53678T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.*279T>G | ENSP00000496126.2:n.*279T>G | |
| ENST00000490179.4:c.*279T>G | ENSP00000495533.2:n.*279T>G | |
| ENST00000642261.2:c.*1630T>G | ENSP00000494743.2:n.*1630T>G | |
| ENST00000643275.2:c.*1714T>G | ENSP00000495598.2:n.*1714T>G | |
| ENST00000643362.2:c.*279T>G | ENSP00000496398.2:n.*279T>G | |
| ENST00000643625.2:c.*1516T>G | ENSP00000495546.2:n.*1516T>G | |
| ENST00000643691.2:c.*279T>G | ENSP00000494916.2:n.*279T>G | |
| ENST00000644184.2:c.*279T>G | ENSP00000495428.2:n.*279T>G | |
| ENST00000645129.2:c.*279T>G | ENSP00000493639.2:n.*279T>G | |
| ENST00000646440.2:c.*279T>G | ENSP00000495830.2:n.*279T>G | |
| ENST00000298552.9:c.*279T>G MANE Select | ENSP00000298552.3:n.*279T>G | |
| ENST00000642617.1:c.*279T>G | ENSP00000493773.1:n.*279T>G | |
| ENST00000642627.1:c.*279T>G | ENSP00000496772.1:n.*279T>G | |
| ENST00000642811.1:c.*3544T>G | ENSP00000495554.1:n.*3544T>G | |
| ENST00000643625.1:c.1651T>G | ENSP00000495546.1:n.1651T>G | |
| ENST00000643875.1:c.*279T>G | ENSP00000495158.1:n.*279T>G | |
| ENST00000644097.1:c.*279T>G | ENSP00000494682.1:n.*279T>G | |
| ENST00000644184.1:c.2469T>G | ENSP00000495428.1:n.2469T>G | |
| ENST00000644786.1:n.1433T>G | ||
| ENST00000644882.1:n.2682T>G | ||
| ENST00000645901.1:n.4625T>G | ||
| ENST00000646625.1:c.*279T>G | ENSP00000496263.1:n.*279T>G | |
| ENST00000647262.1:n.2739T>G | ||
| ENST00000647279.1:c.*3013T>G | ENSP00000494502.1:n.*3013T>G | |
| ENST00000647534.1:n.2838T>G | ||
| ENST00000298552.7:c.*279T>G | ENSP00000298552.3:n.*279T>G | |
| ENST00000440111.6:c.*279T>G | ENSP00000394524.2:n.*279T>G | |
| ENST00000545250.5:c.*279T>G | ENSP00000444017.1:n.*279T>G | |
| NM_000368.4:c.*279T>G , LRG_486t1:c.*279T>G | NP_000359.1:n.*279T>G | |
| NM_001162426.1:c.*279T>G | NP_001155898.1:n.*279T>G | |
| NM_001162427.1:c.*279T>G | NP_001155899.1:n.*279T>G | |
| XM_005272211.1:c.*279T>G | XP_005272268.1:n.*279T>G | |
| XM_006717271.1:c.*279T>G | XP_006717334.1:n.*279T>G | |
| XM_011518979.1:c.*279T>G | XP_011517281.1:n.*279T>G | |
| NM_001362177.1:c.*279T>G | NP_001349106.1:n.*279T>G | |
| XM_011518979.2:c.*279T>G | XP_011517281.1:n.*279T>G | |
| XM_017015096.1:c.*279T>G | XP_016870585.1:n.*279T>G | |
| XM_017015097.1:c.*279T>G | XP_016870586.1:n.*279T>G | |
| XM_017015098.1:c.*279T>G | XP_016870587.1:n.*279T>G | |
| XM_017015100.1:c.*279T>G | XP_016870589.1:n.*279T>G | |
| XM_017015101.1:c.*279T>G | XP_016870590.1:n.*279T>G | |
| NM_000368.5:c.*279T>G MANE Select | NP_000359.1:n.*279T>G | |
| NM_001162426.2:c.*279T>G | NP_001155898.1:n.*279T>G | |
| NM_001162427.2:c.*279T>G | NP_001155899.1:n.*279T>G | |
| NM_001362177.2:c.*279T>G | NP_001349106.1:n.*279T>G |