Linked Data
ClinVar Variation Id:
365515
dbSNP Id:
rs770381040
ExAC:
9:135776171 C / G
gnomAD v2:
9-135776171-C-G
gnomAD v3:
9-132900784-C-G
gnomAD v4:
9-132900784-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132900784C>G , CM000671.2:g.132900784C>G | GRCh38 |
| NC_000009.11:g.135776171C>G , CM000671.1:g.135776171C>G | GRCh37 |
| NC_000009.10:g.134765992C>G | NCBI36 |
| NG_012386.1:g.48850G>C , LRG_486:g.48850G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475903.7:c.2553G>C | ENSP00000496126.2:p.Leu851= | |
| ENST00000490179.4:c.2556G>C | ENSP00000495533.2:p.Leu852= | |
| ENST00000642261.2:c.*335G>C | ENSP00000494743.2:n.*335G>C | |
| ENST00000643275.2:c.*496G>C | ENSP00000495598.2:n.*496G>C | |
| ENST00000643362.2:c.2169G>C | ENSP00000496398.2:p.Leu723= | |
| ENST00000643625.2:c.*298G>C | ENSP00000495546.2:n.*298G>C | |
| ENST00000643691.2:c.2193G>C | ENSP00000494916.2:p.Leu731= | |
| ENST00000644184.2:c.2514G>C | ENSP00000495428.2:p.Leu838= | |
| ENST00000645129.2:c.2400G>C | ENSP00000493639.2:p.Leu800= | |
| ENST00000646440.2:c.2556G>C | ENSP00000495830.2:p.Leu852= | |
| ENST00000298552.9:c.2556G>C MANE Select | ENSP00000298552.3:p.Leu852= | |
| ENST00000642261.1:c.616G>C | ||
| ENST00000642617.1:c.2553G>C | ENSP00000493773.1:p.Leu851= | |
| ENST00000642627.1:c.2538G>C | ENSP00000496772.1:p.Leu846= | |
| ENST00000642811.1:c.*2326G>C | ENSP00000495554.1:n.*2326G>C | |
| ENST00000643072.1:c.2403G>C | ENSP00000496691.1:p.Leu801= | |
| ENST00000643275.1:c.1030G>C | ENSP00000495598.1:n.1030G>C | |
| ENST00000643583.1:c.2541G>C | ENSP00000494685.1:p.Leu847= | |
| ENST00000643625.1:c.433G>C | ENSP00000495546.1:n.433G>C | |
| ENST00000643875.1:c.2556G>C | ENSP00000495158.1:p.Leu852= | |
| ENST00000644097.1:c.2553G>C | ENSP00000494682.1:p.Leu851= | |
| ENST00000644184.1:c.1251G>C | ENSP00000495428.1:p.Leu417= | |
| ENST00000644255.1:c.*2323G>C | ENSP00000493608.1:n.*2323G>C | |
| ENST00000644319.1:n.2931G>C | ||
| ENST00000644786.1:n.215G>C | ||
| ENST00000644882.1:n.1469G>C | ||
| ENST00000645901.1:n.3407G>C | ||
| ENST00000646391.1:c.*2326G>C | ENSP00000494104.1:n.*2326G>C | |
| ENST00000646625.1:c.2556G>C | ENSP00000496263.1:p.Leu852= | |
| ENST00000647262.1:n.1521G>C | ||
| ENST00000647279.1:c.*1795G>C | ENSP00000494502.1:n.*1795G>C | |
| ENST00000647506.1:n.3432G>C | ||
| ENST00000647534.1:n.1620G>C | ||
| ENST00000298552.7:c.2556G>C | ENSP00000298552.3:p.Leu852= | |
| ENST00000440111.6:c.2556G>C | ENSP00000394524.2:p.Leu852= | |
| ENST00000545250.5:c.2403G>C | ENSP00000444017.1:p.Leu801= | |
| NM_000368.4:c.2556G>C , LRG_486t1:c.2556G>C | NP_000359.1:p.Leu852= | |
| NM_001162426.1:c.2553G>C | NP_001155898.1:p.Leu851= | |
| NM_001162427.1:c.2403G>C | NP_001155899.1:p.Leu801= | |
| XM_005272211.1:c.2556G>C | XP_005272268.1:p.Leu852= | |
| XM_006717271.1:c.2556G>C | XP_006717334.1:p.Leu852= | |
| XM_011518979.1:c.2556G>C | XP_011517281.1:p.Leu852= | |
| NM_001362177.1:c.2193G>C | NP_001349106.1:p.Leu731= | |
| XM_011518979.2:c.2556G>C | XP_011517281.1:p.Leu852= | |
| XM_017015096.1:c.2556G>C | XP_016870585.1:p.Leu852= | |
| XM_017015097.1:c.2556G>C | XP_016870586.1:p.Leu852= | |
| XM_017015098.1:c.2553G>C | XP_016870587.1:p.Leu851= | |
| XM_017015100.1:c.2193G>C | XP_016870589.1:p.Leu731= | |
| XM_017015101.1:c.2190G>C | XP_016870590.1:p.Leu730= | |
| NM_000368.5:c.2556G>C MANE Select | NP_000359.1:p.Leu852= | |
| NM_001162426.2:c.2553G>C | NP_001155898.1:p.Leu851= | |
| NM_001162427.2:c.2403G>C | NP_001155899.1:p.Leu801= | |
| NM_001362177.2:c.2193G>C | NP_001349106.1:p.Leu731= |