Linked Data
ClinVar Variation Id:
3015243
ClinVar RCV Id:
RCV003870850
dbSNP Id:
rs1458137414
gnomAD v2:
9-135779059-C-T
gnomAD v4:
9-132903672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132903672C>T , CM000671.2:g.132903672C>T | GRCh38 |
| NC_000009.11:g.135779059C>T , CM000671.1:g.135779059C>T | GRCh37 |
| NC_000009.10:g.134768880C>T | NCBI36 |
| NG_012386.1:g.45962G>A , LRG_486:g.45962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2184G>A | ENSP00000496126.2:p.Leu728= | |
| ENST00000490179.4:c.2187G>A | ENSP00000495533.2:p.Leu729= | |
| ENST00000642261.2:c.2187G>A | ENSP00000494743.2:p.Leu729= | |
| ENST00000643275.2:c.*127G>A | ENSP00000495598.2:n.*127G>A | |
| ENST00000643362.2:c.1800G>A | ENSP00000496398.2:p.Leu600= | |
| ENST00000643625.2:c.2041+739G>A | ENSP00000495546.2:n.2041+739G>A | |
| ENST00000643691.2:c.1824G>A | ENSP00000494916.2:p.Leu608= | |
| ENST00000644184.2:c.2187G>A | ENSP00000495428.2:p.Leu729= | |
| ENST00000645129.2:c.2031G>A | ENSP00000493639.2:p.Leu677= | |
| ENST00000646440.2:c.2187G>A | ENSP00000495830.2:p.Leu729= | |
| ENST00000298552.9:c.2187G>A MANE Select | ENSP00000298552.3:p.Leu729= | |
| ENST00000642261.1:c.251G>A | ||
| ENST00000642617.1:c.2184G>A | ENSP00000493773.1:p.Leu728= | |
| ENST00000642627.1:c.2169G>A | ENSP00000496772.1:p.Leu723= | |
| ENST00000642811.1:c.*1957G>A | ENSP00000495554.1:n.*1957G>A | |
| ENST00000643072.1:c.2034G>A | ENSP00000496691.1:p.Leu678= | |
| ENST00000643275.1:c.661G>A | ENSP00000495598.1:n.661G>A | |
| ENST00000643583.1:c.2172G>A | ENSP00000494685.1:p.Leu724= | |
| ENST00000643625.1:c.85+739G>A | ENSP00000495546.1:n.85+739G>A | |
| ENST00000643875.1:c.2187G>A | ENSP00000495158.1:p.Leu729= | |
| ENST00000644097.1:c.2184G>A | ENSP00000494682.1:p.Leu728= | |
| ENST00000644184.1:c.924G>A | ENSP00000495428.1:p.Leu308= | |
| ENST00000644255.1:c.*1954G>A | ENSP00000493608.1:n.*1954G>A | |
| ENST00000644319.1:n.2562G>A | ||
| ENST00000644882.1:n.1142G>A | ||
| ENST00000645901.1:n.3038G>A | ||
| ENST00000646391.1:c.*1957G>A | ENSP00000494104.1:n.*1957G>A | |
| ENST00000646625.1:c.2187G>A | ENSP00000496263.1:p.Leu729= | |
| ENST00000647262.1:n.1152G>A | ||
| ENST00000647279.1:c.*1426G>A | ENSP00000494502.1:n.*1426G>A | |
| ENST00000647506.1:n.3063G>A | ||
| ENST00000647534.1:n.1251G>A | ||
| ENST00000298552.7:c.2187G>A | ENSP00000298552.3:p.Leu729= | |
| ENST00000440111.6:c.2187G>A | ENSP00000394524.2:p.Leu729= | |
| ENST00000545250.5:c.2034G>A | ENSP00000444017.1:p.Leu678= | |
| NM_000368.4:c.2187G>A , LRG_486t1:c.2187G>A | NP_000359.1:p.Leu729= | |
| NM_001162426.1:c.2184G>A | NP_001155898.1:p.Leu728= | |
| NM_001162427.1:c.2034G>A | NP_001155899.1:p.Leu678= | |
| XM_005272211.1:c.2187G>A | XP_005272268.1:p.Leu729= | |
| XM_006717271.1:c.2187G>A | XP_006717334.1:p.Leu729= | |
| XM_011518979.1:c.2187G>A | XP_011517281.1:p.Leu729= | |
| NM_001362177.1:c.1824G>A | NP_001349106.1:p.Leu608= | |
| XM_011518979.2:c.2187G>A | XP_011517281.1:p.Leu729= | |
| XM_017015096.1:c.2187G>A | XP_016870585.1:p.Leu729= | |
| XM_017015097.1:c.2187G>A | XP_016870586.1:p.Leu729= | |
| XM_017015098.1:c.2184G>A | XP_016870587.1:p.Leu728= | |
| XM_017015100.1:c.1824G>A | XP_016870589.1:p.Leu608= | |
| XM_017015101.1:c.1821G>A | XP_016870590.1:p.Leu607= | |
| NM_000368.5:c.2187G>A MANE Select | NP_000359.1:p.Leu729= | |
| NM_001162426.2:c.2184G>A | NP_001155898.1:p.Leu728= | |
| NM_001162427.2:c.2034G>A | NP_001155899.1:p.Leu678= | |
| NM_001362177.2:c.1824G>A | NP_001349106.1:p.Leu608= |