Linked Data
ClinVar Variation Id:
437816
dbSNP Id:
rs542778224
ExAC:
6:99322233 G / A
gnomAD v2:
6-99322233-G-A
gnomAD v3:
6-98874357-G-A
gnomAD v4:
6-98874357-G-A
COSMIC:
COSM1206782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98874357G>A , CM000668.2:g.98874357G>A | GRCh38 |
| NC_000006.11:g.99322233G>A , CM000668.1:g.99322233G>A | GRCh37 |
| NC_000006.10:g.99428954G>A | NCBI36 |
| NG_033903.1:g.78650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1787C>T MANE Select | ENSP00000358247.1:p.Ser596Leu | |
| ENST00000229971.2:c.1787C>T | ENSP00000229971.1:p.Ser596Leu | |
| ENST00000369244.6:c.1787C>T | ENSP00000358247.1:p.Ser596Leu | |
| NM_001278716.1:c.1787C>T | NP_001265645.1:p.Ser596Leu | |
| NM_012160.4:c.1787C>T | NP_036292.2:p.Ser596Leu | |
| NR_103836.1:n.1832C>T | ||
| XM_005266930.1:c.1715C>T | XP_005266987.1:p.Ser572Leu | |
| XM_005266930.3:c.1715C>T | XP_005266987.1:p.Ser572Leu | |
| XM_017010726.1:c.1787C>T | XP_016866215.1:p.Ser596Leu | |
| XM_017010727.2:c.1715C>T | XP_016866216.1:p.Ser572Leu | |
| XM_017010728.1:c.1061C>T | XP_016866217.1:p.Ser354Leu | |
| NM_001278716.2:c.1787C>T MANE Select | NP_001265645.1:p.Ser596Leu | |
| NR_103836.2:n.1772C>T | ||
| NM_012160.5:c.1787C>T | NP_036292.2:p.Ser596Leu |