Linked Data
ClinVar Variation Id:
207639
dbSNP Id:
rs796053450
gnomAD v2:
9-135772031-C-A
gnomAD v4:
9-132896644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896644C>A , CM000671.2:g.132896644C>A | GRCh38 |
| NC_000009.11:g.135772031C>A , CM000671.1:g.135772031C>A | GRCh37 |
| NC_000009.10:g.134761852C>A | NCBI36 |
| NG_012386.1:g.52990G>T , LRG_486:g.52990G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3083G>T | ENSP00000496126.2:p.Ser1028Ile | |
| ENST00000490179.4:c.3086G>T | ENSP00000495533.2:p.Ser1029Ile | |
| ENST00000642261.2:c.*942G>T | ENSP00000494743.2:n.*942G>T | |
| ENST00000643275.2:c.*1026G>T | ENSP00000495598.2:n.*1026G>T | |
| ENST00000643362.2:c.2699G>T | ENSP00000496398.2:p.Ser900Ile | |
| ENST00000643625.2:c.*828G>T | ENSP00000495546.2:n.*828G>T | |
| ENST00000643691.2:c.2723G>T | ENSP00000494916.2:p.Ser908Ile | |
| ENST00000644184.2:c.3044G>T | ENSP00000495428.2:p.Ser1015Ile | |
| ENST00000645129.2:c.2930G>T | ENSP00000493639.2:p.Ser977Ile | |
| ENST00000646440.2:c.3086G>T | ENSP00000495830.2:p.Ser1029Ile | |
| ENST00000298552.9:c.3086G>T MANE Select | ENSP00000298552.3:p.Ser1029Ile | |
| ENST00000642261.1:c.1223G>T | ||
| ENST00000642617.1:c.3083G>T | ENSP00000493773.1:p.Ser1028Ile | |
| ENST00000642627.1:c.3068G>T | ENSP00000496772.1:p.Ser1023Ile | |
| ENST00000642811.1:c.*2856G>T | ENSP00000495554.1:n.*2856G>T | |
| ENST00000643072.1:c.2933G>T | ENSP00000496691.1:p.Ser978Ile | |
| ENST00000643275.1:c.1560G>T | ENSP00000495598.1:n.1560G>T | |
| ENST00000643583.1:c.3071G>T | ENSP00000494685.1:p.Ser1024Ile | |
| ENST00000643625.1:c.963G>T | ENSP00000495546.1:n.963G>T | |
| ENST00000643875.1:c.3086G>T | ENSP00000495158.1:p.Ser1029Ile | |
| ENST00000644097.1:c.3083G>T | ENSP00000494682.1:p.Ser1028Ile | |
| ENST00000644184.1:c.1781G>T | ENSP00000495428.1:p.Ser594Ile | |
| ENST00000644255.1:c.*2853G>T | ENSP00000493608.1:n.*2853G>T | |
| ENST00000644319.1:n.3461G>T | ||
| ENST00000644786.1:n.745G>T | ||
| ENST00000644882.1:n.1994G>T | ||
| ENST00000645901.1:n.3937G>T | ||
| ENST00000646391.1:c.*2856G>T | ENSP00000494104.1:n.*2856G>T | |
| ENST00000646625.1:c.3086G>T | ENSP00000496263.1:p.Ser1029Ile | |
| ENST00000647262.1:n.2051G>T | ||
| ENST00000647279.1:c.*2325G>T | ENSP00000494502.1:n.*2325G>T | |
| ENST00000647534.1:n.2150G>T | ||
| ENST00000298552.7:c.3086G>T | ENSP00000298552.3:p.Ser1029Ile | |
| ENST00000440111.6:c.3086G>T | ENSP00000394524.2:p.Ser1029Ile | |
| ENST00000545250.5:c.2933G>T | ENSP00000444017.1:p.Ser978Ile | |
| NM_000368.4:c.3086G>T , LRG_486t1:c.3086G>T | NP_000359.1:p.Ser1029Ile | |
| NM_001162426.1:c.3083G>T | NP_001155898.1:p.Ser1028Ile | |
| NM_001162427.1:c.2933G>T | NP_001155899.1:p.Ser978Ile | |
| XM_005272211.1:c.3086G>T | XP_005272268.1:p.Ser1029Ile | |
| XM_006717271.1:c.3086G>T | XP_006717334.1:p.Ser1029Ile | |
| XM_011518979.1:c.3086G>T | XP_011517281.1:p.Ser1029Ile | |
| NM_001362177.1:c.2723G>T | NP_001349106.1:p.Ser908Ile | |
| XM_011518979.2:c.3086G>T | XP_011517281.1:p.Ser1029Ile | |
| XM_017015096.1:c.3086G>T | XP_016870585.1:p.Ser1029Ile | |
| XM_017015097.1:c.3086G>T | XP_016870586.1:p.Ser1029Ile | |
| XM_017015098.1:c.3083G>T | XP_016870587.1:p.Ser1028Ile | |
| XM_017015100.1:c.2723G>T | XP_016870589.1:p.Ser908Ile | |
| XM_017015101.1:c.2720G>T | XP_016870590.1:p.Ser907Ile | |
| NM_000368.5:c.3086G>T MANE Select | NP_000359.1:p.Ser1029Ile | |
| NM_001162426.2:c.3083G>T | NP_001155898.1:p.Ser1028Ile | |
| NM_001162427.2:c.2933G>T | NP_001155899.1:p.Ser978Ile | |
| NM_001362177.2:c.2723G>T | NP_001349106.1:p.Ser908Ile |