Linked Data
ClinVar Variation Id:
428188
dbSNP Id:
rs770834438
ExAC:
9:135772613 A / C
gnomAD v2:
9-135772613-A-C
gnomAD v4:
9-132897226-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132897226A>C , CM000671.2:g.132897226A>C | GRCh38 |
| NC_000009.11:g.135772613A>C , CM000671.1:g.135772613A>C | GRCh37 |
| NC_000009.10:g.134762434A>C | NCBI36 |
| NG_012386.1:g.52408T>G , LRG_486:g.52408T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2930T>G | ENSP00000496126.2:p.Leu977Arg | |
| ENST00000490179.4:c.2933T>G | ENSP00000495533.2:p.Leu978Arg | |
| ENST00000642261.2:c.*789T>G | ENSP00000494743.2:n.*789T>G | |
| ENST00000643275.2:c.*873T>G | ENSP00000495598.2:n.*873T>G | |
| ENST00000643362.2:c.2546T>G | ENSP00000496398.2:p.Leu849Arg | |
| ENST00000643625.2:c.*675T>G | ENSP00000495546.2:n.*675T>G | |
| ENST00000643691.2:c.2570T>G | ENSP00000494916.2:p.Leu857Arg | |
| ENST00000644184.2:c.2891T>G | ENSP00000495428.2:p.Leu964Arg | |
| ENST00000645129.2:c.2777T>G | ENSP00000493639.2:p.Leu926Arg | |
| ENST00000646440.2:c.2933T>G | ENSP00000495830.2:p.Leu978Arg | |
| ENST00000298552.9:c.2933T>G MANE Select | ENSP00000298552.3:p.Leu978Arg | |
| ENST00000642261.1:c.1070T>G | ||
| ENST00000642617.1:c.2930T>G | ENSP00000493773.1:p.Leu977Arg | |
| ENST00000642627.1:c.2915T>G | ENSP00000496772.1:p.Leu972Arg | |
| ENST00000642811.1:c.*2703T>G | ENSP00000495554.1:n.*2703T>G | |
| ENST00000643072.1:c.2780T>G | ENSP00000496691.1:p.Leu927Arg | |
| ENST00000643275.1:c.1407T>G | ENSP00000495598.1:n.1407T>G | |
| ENST00000643583.1:c.2918T>G | ENSP00000494685.1:p.Leu973Arg | |
| ENST00000643625.1:c.810T>G | ENSP00000495546.1:n.810T>G | |
| ENST00000643875.1:c.2933T>G | ENSP00000495158.1:p.Leu978Arg | |
| ENST00000644097.1:c.2930T>G | ENSP00000494682.1:p.Leu977Arg | |
| ENST00000644184.1:c.1628T>G | ENSP00000495428.1:p.Leu543Arg | |
| ENST00000644255.1:c.*2700T>G | ENSP00000493608.1:n.*2700T>G | |
| ENST00000644319.1:n.3308T>G | ||
| ENST00000644786.1:n.592T>G | ||
| ENST00000644882.1:n.1841T>G | ||
| ENST00000645901.1:n.3784T>G | ||
| ENST00000646391.1:c.*2703T>G | ENSP00000494104.1:n.*2703T>G | |
| ENST00000646625.1:c.2933T>G | ENSP00000496263.1:p.Leu978Arg | |
| ENST00000647262.1:n.1898T>G | ||
| ENST00000647279.1:c.*2172T>G | ENSP00000494502.1:n.*2172T>G | |
| ENST00000647534.1:n.1997T>G | ||
| ENST00000298552.7:c.2933T>G | ENSP00000298552.3:p.Leu978Arg | |
| ENST00000440111.6:c.2933T>G | ENSP00000394524.2:p.Leu978Arg | |
| ENST00000545250.5:c.2780T>G | ENSP00000444017.1:p.Leu927Arg | |
| NM_000368.4:c.2933T>G , LRG_486t1:c.2933T>G | NP_000359.1:p.Leu978Arg | |
| NM_001162426.1:c.2930T>G | NP_001155898.1:p.Leu977Arg | |
| NM_001162427.1:c.2780T>G | NP_001155899.1:p.Leu927Arg | |
| XM_005272211.1:c.2933T>G | XP_005272268.1:p.Leu978Arg | |
| XM_006717271.1:c.2933T>G | XP_006717334.1:p.Leu978Arg | |
| XM_011518979.1:c.2933T>G | XP_011517281.1:p.Leu978Arg | |
| NM_001362177.1:c.2570T>G | NP_001349106.1:p.Leu857Arg | |
| XM_011518979.2:c.2933T>G | XP_011517281.1:p.Leu978Arg | |
| XM_017015096.1:c.2933T>G | XP_016870585.1:p.Leu978Arg | |
| XM_017015097.1:c.2933T>G | XP_016870586.1:p.Leu978Arg | |
| XM_017015098.1:c.2930T>G | XP_016870587.1:p.Leu977Arg | |
| XM_017015100.1:c.2570T>G | XP_016870589.1:p.Leu857Arg | |
| XM_017015101.1:c.2567T>G | XP_016870590.1:p.Leu856Arg | |
| NM_000368.5:c.2933T>G MANE Select | NP_000359.1:p.Leu978Arg | |
| NM_001162426.2:c.2930T>G | NP_001155898.1:p.Leu977Arg | |
| NM_001162427.2:c.2780T>G | NP_001155899.1:p.Leu927Arg | |
| NM_001362177.2:c.2570T>G | NP_001349106.1:p.Leu857Arg |