Linked Data
ClinVar Variation Id:
239824
dbSNP Id:
rs56071005
ExAC:
2:29443623 G / A
gnomAD v2:
2-29443623-G-A
gnomAD v3:
2-29220757-G-A
gnomAD v4:
2-29220757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220757G>A , CM000664.2:g.29220757G>A | GRCh38 |
| NC_000002.11:g.29443623G>A , CM000664.1:g.29443623G>A | GRCh37 |
| NC_000002.10:g.29297127G>A | NCBI36 |
| NG_009445.1:g.705810C>T , LRG_488:g.705810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3594C>T MANE Select | ENSP00000373700.3:p.Leu1198= | |
| ENST00000431873.6:c.821C>T | ||
| ENST00000638605.1:n.471C>T | ||
| ENST00000642122.1:c.390C>T | ENSP00000493203.1:p.Leu130= | |
| ENST00000389048.7:c.3594C>T | ENSP00000373700.3:p.Leu1198= | |
| ENST00000431873.5:c.474C>T | ENSP00000414027.2:p.Leu158= | |
| ENST00000618119.4:c.2463C>T | ENSP00000482733.1:p.Leu821= | |
| NM_004304.4:c.3594C>T | NP_004295.2:p.Leu1198= | |
| NM_001353765.1:c.390C>T | NP_001340694.1:p.Leu130= | |
| XM_024452778.1:c.747C>T | XP_024308546.1:p.Leu249= | |
| XM_024452779.1:c.390C>T | XP_024308547.1:p.Leu130= | |
| NM_004304.5:c.3594C>T MANE Select | NP_004295.2:p.Leu1198= | |
| NM_001353765.2:c.390C>T | NP_001340694.1:p.Leu130= |