Linked Data
ClinVar Variation Id:
437786
ClinVar RCV Id:
RCV000503180
dbSNP Id:
rs143428179
ExAC:
6:99323312 A / T
gnomAD v2:
6-99323312-A-T
gnomAD v3:
6-98875436-A-T
gnomAD v4:
6-98875436-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875436A>T , CM000668.2:g.98875436A>T | GRCh38 |
| NC_000006.11:g.99323312A>T , CM000668.1:g.99323312A>T | GRCh37 |
| NC_000006.10:g.99430033A>T | NCBI36 |
| NG_033903.1:g.77571T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1681T>A MANE Select | ENSP00000358247.1:p.Leu561Ile | |
| ENST00000229971.2:c.1681T>A | ENSP00000229971.1:p.Leu561Ile | |
| ENST00000369244.6:c.1681T>A | ENSP00000358247.1:p.Leu561Ile | |
| NM_001278716.1:c.1681T>A | NP_001265645.1:p.Leu561Ile | |
| NM_012160.4:c.1681T>A | NP_036292.2:p.Leu561Ile | |
| NR_103836.1:n.1726T>A | ||
| XM_005266930.1:c.1609T>A | XP_005266987.1:p.Leu537Ile | |
| XM_005266930.3:c.1609T>A | XP_005266987.1:p.Leu537Ile | |
| XM_017010726.1:c.1681T>A | XP_016866215.1:p.Leu561Ile | |
| XM_017010727.2:c.1609T>A | XP_016866216.1:p.Leu537Ile | |
| XM_017010728.1:c.955T>A | XP_016866217.1:p.Leu319Ile | |
| NM_001278716.2:c.1681T>A MANE Select | NP_001265645.1:p.Leu561Ile | |
| NR_103836.2:n.1666T>A | ||
| NM_012160.5:c.1681T>A | NP_036292.2:p.Leu561Ile |