Linked Data
dbSNP Id:
rs762840240
ExAC:
1:11334018 G / C
gnomAD v2:
1-11334018-G-C
gnomAD v3:
1-11273961-G-C
gnomAD v4:
1-11273961-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273961G>C , CM000663.2:g.11273961G>C | GRCh38 |
| NC_000001.10:g.11334018G>C , CM000663.1:g.11334018G>C | GRCh37 |
| NC_000001.9:g.11256605G>C | NCBI36 |
| NG_009443.1:g.5764G>C | |
| NG_009443.2:g.5764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.430G>C MANE Select | ENSP00000366006.5:p.Val144Leu | |
| ENST00000376804.2:c.430G>C | ENSP00000366000.1:p.Val144Leu | |
| ENST00000376810.5:c.430G>C | ENSP00000366006.5:p.Val144Leu | |
| ENST00000483738.1:c.28G>C | ENSP00000473453.1:p.Val10Leu | |
| ENST00000486588.6:c.73G>C | ENSP00000473612.1:p.Val25Leu | |
| NM_013319.2:c.430G>C | NP_037451.1:p.Val144Leu | |
| XM_006710590.2:c.430G>C | XP_006710653.1:p.Val144Leu | |
| XM_011541304.1:c.430G>C | XP_011539606.1:p.Val144Leu | |
| XR_946616.1:n.764G>C | ||
| NM_001330349.1:c.430G>C | NP_001317278.1:p.Val144Leu | |
| NM_001330350.1:c.430G>C | NP_001317279.1:p.Val144Leu | |
| XR_946616.3:n.764G>C | ||
| NM_001330349.2:c.430G>C | NP_001317278.1:p.Val144Leu | |
| NM_001330350.2:c.430G>C | NP_001317279.1:p.Val144Leu | |
| NM_013319.3:c.430G>C MANE Select | NP_037451.1:p.Val144Leu |