Linked Data
ClinVar Variation Id:
163798
dbSNP Id:
rs147118520
ExAC:
6:112575014 A / G
gnomAD v2:
6-112575014-A-G
gnomAD v3:
6-112253812-A-G
gnomAD v4:
6-112253812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112253812A>G , CM000668.2:g.112253812A>G | GRCh38 |
| NC_000006.11:g.112575014A>G , CM000668.1:g.112575014A>G | GRCh37 |
| NC_000006.10:g.112681707A>G | NCBI36 |
| NG_008209.1:g.5815T>C , LRG_433:g.5815T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.195+144T>C (LAMA4) MANE Select | ENSP00000230538.7:n.195+144T>C | |
| ENST00000368638.5:c.339T>C (LAMA4) | ENSP00000357627.4:p.Leu113= | |
| ENST00000389463.9:c.195+144T>C (LAMA4) | ENSP00000374114.4:n.195+144T>C | |
| ENST00000230538.11:c.195+144T>C (LAMA4) | ENSP00000230538.7:n.195+144T>C | |
| ENST00000243219.7:c.195+144T>C (LAMA4) | ENSP00000243219.3:n.195+144T>C | |
| ENST00000368638.4:c.339T>C (LAMA4) | ENSP00000357627.4:p.Leu113= | |
| ENST00000389463.8:c.195+144T>C (LAMA4) | ENSP00000374114.4:n.195+144T>C | |
| ENST00000424408.6:c.195+144T>C (LAMA4) | ENSP00000416470.2:n.195+144T>C | |
| ENST00000431543.6:c.195+144T>C (LAMA4) | ENSP00000412136.2:n.195+144T>C | |
| ENST00000453937.2:c.339T>C (LAMA4) | ENSP00000398226.2:p.Leu113= | |
| ENST00000455073.1:c.339T>C (LAMA4) | ENSP00000408604.1:p.Leu113= | |
| ENST00000519932.5:c.195+144T>C (LAMA4) | ENSP00000428583.1:n.195+144T>C | |
| ENST00000521398.5:c.195+144T>C (LAMA4) | ENSP00000430336.1:n.195+144T>C | |
| ENST00000521690.1:c.195+144T>C (LAMA4) | ENSP00000430415.1:n.195+144T>C | |
| ENST00000522006.5:c.195+144T>C (LAMA4) | ENSP00000429488.1:n.195+144T>C | |
| ENST00000585504.5:n.111+16896A>G | ||
| ENST00000585611.5:c.-732+16896A>G | ENSP00000486440.1:n.-732+16896A>G | |
| ENST00000587816.2:c.-398+16896A>G | ENSP00000487146.1:n.-398+16896A>G | |
| ENST00000590673.5:c.-351+16896A>G | ENSP00000486934.1:n.-351+16896A>G | |
| NM_001105206.2:c.195+144T>C (LAMA4) | NP_001098676.2:n.195+144T>C | |
| NM_001105207.2:c.195+144T>C (LAMA4) | NP_001098677.2:n.195+144T>C | |
| NM_001105208.2:c.339T>C (LAMA4) | NP_001098678.1:p.Leu113= | |
| NM_001105209.2:c.339T>C (LAMA4) | NP_001098679.1:p.Leu113= | |
| NM_002290.4:c.195+144T>C (LAMA4) | NP_002281.3:n.195+144T>C | |
| NR_121193.1:n.181+16896A>G (LAMA4-AS1) | ||
| XM_005266983.3:c.195+144T>C (LAMA4) | XP_005267040.2:n.195+144T>C | |
| XM_005266984.3:c.195+144T>C (LAMA4) | XP_005267041.2:n.195+144T>C | |
| XM_011535821.1:c.195+144T>C (LAMA4) | XP_011534123.1:n.195+144T>C | |
| XM_005266983.4:c.195+144T>C (LAMA4) | XP_005267040.2:n.195+144T>C | |
| XM_005266984.4:c.195+144T>C (LAMA4) | XP_005267041.2:n.195+144T>C | |
| XM_017010854.2:c.195+144T>C (LAMA4) | XP_016866343.1:n.195+144T>C | |
| XR_001743406.2:n.466+144T>C (LAMA4) | ||
| XR_001743407.2:n.466+144T>C (LAMA4) | ||
| NM_001105206.3:c.195+144T>C (LAMA4) MANE Select | NP_001098676.2:n.195+144T>C | |
| NM_001105207.3:c.195+144T>C (LAMA4) | NP_001098677.2:n.195+144T>C | |
| NM_002290.5:c.195+144T>C (LAMA4) | NP_002281.3:n.195+144T>C | |
| NM_001105208.3:c.339T>C (LAMA4) | NP_001098678.1:p.Leu113= | |
| NM_001105209.3:c.339T>C (LAMA4) | NP_001098679.1:p.Leu113= |