Linked Data
ClinVar Variation Id:
177981
dbSNP Id:
rs150397427
ExAC:
21:43805593 C / A
gnomAD v2:
21-43805593-C-A
gnomAD v3:
21-42385484-C-A
gnomAD v4:
21-42385484-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42385484C>A , CM000683.2:g.42385484C>A | GRCh38 |
| NC_000021.8:g.43805593C>A , CM000683.1:g.43805593C>A | GRCh37 |
| NC_000021.7:g.42678662C>A | NCBI36 |
| NG_011629.1:g.15608G>T | |
| NG_011629.2:g.15608G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433957.7:c.497G>T | ENSP00000411013.3:p.Arg166Leu | |
| ENST00000644384.2:c.497G>T MANE Select | ENSP00000494414.1:p.Arg166Leu | |
| ENST00000652415.1:c.497G>T | ENSP00000498756.1:p.Arg166Leu | |
| ENST00000291532.7:c.497G>T | ENSP00000291532.3:p.Arg166Leu | |
| ENST00000398397.3:c.497G>T | ENSP00000381434.3:p.Arg166Leu | |
| ENST00000398405.5:c.491G>T | ENSP00000381442.1:p.Arg164Leu | |
| ENST00000433957.6:c.497G>T | ENSP00000411013.2:p.Arg166Leu | |
| ENST00000474596.5:n.365G>T | ||
| ENST00000482761.1:n.784G>T | ||
| NM_001256317.1:c.497G>T | NP_001243246.1:p.Arg166Leu | |
| NM_024022.2:c.497G>T | NP_076927.1:p.Arg166Leu | |
| NM_032404.2:c.116G>T | NP_115780.1:p.Arg39Leu | |
| NM_032405.1:c.497G>T | NP_115781.1:p.Arg166Leu | |
| NR_046020.1:n.1453G>T | ||
| NM_001256317.2:c.497G>T | NP_001243246.1:p.Arg166Leu | |
| NM_024022.3:c.497G>T | NP_076927.1:p.Arg166Leu | |
| NM_032405.2:c.497G>T | NP_115781.1:p.Arg166Leu | |
| NM_001256317.3:c.497G>T MANE Select | NP_001243246.1:p.Arg166Leu | |
| NM_024022.4:c.497G>T | NP_076927.1:p.Arg166Leu | |
| NM_032404.3:c.116G>T | NP_115780.1:p.Arg39Leu |