Linked Data
dbSNP Id:
rs2641348
ExAC:
1:120437884 A / G
gnomAD v2:
1-120437884-A-G
gnomAD v3:
1-119895261-A-G
gnomAD v4:
1-119895261-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119895261A>G , CM000663.2:g.119895261A>G | GRCh38 |
| NC_000001.10:g.120437884A>G , CM000663.1:g.120437884A>G | GRCh37 |
| NC_000001.9:g.120239407A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369400.2:c.1076T>C MANE Select | ENSP00000358407.1:p.Leu359Pro | |
| ENST00000369400.1:c.1076T>C | ENSP00000358407.1:p.Leu359Pro | |
| NM_021794.3:c.1076T>C | NP_068566.2:p.Leu359Pro | |
| NM_021794.4:c.1076T>C MANE Select | NP_068566.2:p.Leu359Pro |