Linked Data
ClinVar Variation Id:
48952
dbSNP Id:
rs118203690
gnomAD v2:
9-135777058-A-G
gnomAD v3:
9-132901671-A-G
gnomAD v4:
9-132901671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132901671A>G , CM000671.2:g.132901671A>G | GRCh38 |
| NC_000009.11:g.135777058A>G , CM000671.1:g.135777058A>G | GRCh37 |
| NC_000009.10:g.134766879A>G | NCBI36 |
| NG_012386.1:g.47963T>C , LRG_486:g.47963T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2417T>C | ENSP00000496126.2:p.Ile806Thr | |
| ENST00000490179.4:c.2420T>C | ENSP00000495533.2:p.Ile807Thr | |
| ENST00000642261.2:c.*199T>C | ENSP00000494743.2:n.*199T>C | |
| ENST00000643275.2:c.*360T>C | ENSP00000495598.2:n.*360T>C | |
| ENST00000643362.2:c.2033T>C | ENSP00000496398.2:p.Ile678Thr | |
| ENST00000643625.2:c.*162T>C | ENSP00000495546.2:n.*162T>C | |
| ENST00000643691.2:c.2057T>C | ENSP00000494916.2:p.Ile686Thr | |
| ENST00000644184.2:c.2420T>C | ENSP00000495428.2:p.Ile807Thr | |
| ENST00000645129.2:c.2264T>C | ENSP00000493639.2:p.Ile755Thr | |
| ENST00000646440.2:c.2420T>C | ENSP00000495830.2:p.Ile807Thr | |
| ENST00000298552.9:c.2420T>C MANE Select | ENSP00000298552.3:p.Ile807Thr | |
| ENST00000642261.1:c.480T>C | ||
| ENST00000642617.1:c.2417T>C | ENSP00000493773.1:p.Ile806Thr | |
| ENST00000642627.1:c.2402T>C | ENSP00000496772.1:p.Ile801Thr | |
| ENST00000642811.1:c.*2190T>C | ENSP00000495554.1:n.*2190T>C | |
| ENST00000643072.1:c.2267T>C | ENSP00000496691.1:p.Ile756Thr | |
| ENST00000643275.1:c.894T>C | ENSP00000495598.1:n.894T>C | |
| ENST00000643583.1:c.2405T>C | ENSP00000494685.1:p.Ile802Thr | |
| ENST00000643625.1:c.297T>C | ENSP00000495546.1:n.297T>C | |
| ENST00000643875.1:c.2420T>C | ENSP00000495158.1:p.Ile807Thr | |
| ENST00000644097.1:c.2417T>C | ENSP00000494682.1:p.Ile806Thr | |
| ENST00000644184.1:c.1157T>C | ENSP00000495428.1:p.Ile386Thr | |
| ENST00000644255.1:c.*2187T>C | ENSP00000493608.1:n.*2187T>C | |
| ENST00000644319.1:n.2795T>C | ||
| ENST00000644786.1:n.79T>C | ||
| ENST00000644882.1:n.1375T>C | ||
| ENST00000645901.1:n.3271T>C | ||
| ENST00000646391.1:c.*2190T>C | ENSP00000494104.1:n.*2190T>C | |
| ENST00000646625.1:c.2420T>C | ENSP00000496263.1:p.Ile807Thr | |
| ENST00000647262.1:n.1385T>C | ||
| ENST00000647279.1:c.*1659T>C | ENSP00000494502.1:n.*1659T>C | |
| ENST00000647506.1:n.3296T>C | ||
| ENST00000647534.1:n.1484T>C | ||
| ENST00000298552.7:c.2420T>C | ENSP00000298552.3:p.Ile807Thr | |
| ENST00000440111.6:c.2420T>C | ENSP00000394524.2:p.Ile807Thr | |
| ENST00000545250.5:c.2267T>C | ENSP00000444017.1:p.Ile756Thr | |
| NM_000368.4:c.2420T>C , LRG_486t1:c.2420T>C | NP_000359.1:p.Ile807Thr | |
| NM_001162426.1:c.2417T>C | NP_001155898.1:p.Ile806Thr | |
| NM_001162427.1:c.2267T>C | NP_001155899.1:p.Ile756Thr | |
| XM_005272211.1:c.2420T>C | XP_005272268.1:p.Ile807Thr | |
| XM_006717271.1:c.2420T>C | XP_006717334.1:p.Ile807Thr | |
| XM_011518979.1:c.2420T>C | XP_011517281.1:p.Ile807Thr | |
| NM_001362177.1:c.2057T>C | NP_001349106.1:p.Ile686Thr | |
| XM_011518979.2:c.2420T>C | XP_011517281.1:p.Ile807Thr | |
| XM_017015096.1:c.2420T>C | XP_016870585.1:p.Ile807Thr | |
| XM_017015097.1:c.2420T>C | XP_016870586.1:p.Ile807Thr | |
| XM_017015098.1:c.2417T>C | XP_016870587.1:p.Ile806Thr | |
| XM_017015100.1:c.2057T>C | XP_016870589.1:p.Ile686Thr | |
| XM_017015101.1:c.2054T>C | XP_016870590.1:p.Ile685Thr | |
| NM_000368.5:c.2420T>C MANE Select | NP_000359.1:p.Ile807Thr | |
| NM_001162426.2:c.2417T>C | NP_001155898.1:p.Ile806Thr | |
| NM_001162427.2:c.2267T>C | NP_001155899.1:p.Ile756Thr | |
| NM_001362177.2:c.2057T>C | NP_001349106.1:p.Ile686Thr |