Linked Data
dbSNP Id:
rs780576067
ExAC:
3:52258379 A / G
gnomAD v2:
3-52258379-A-G
gnomAD v4:
3-52224363-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224363A>G , CM000665.2:g.52224363A>G | GRCh38 |
| NC_000003.11:g.52258379A>G , CM000665.1:g.52258379A>G | GRCh37 |
| NC_000003.10:g.52233419A>G | NCBI36 |
| NG_033933.1:g.6801T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360658.3:c.4-51T>C MANE Select | ENSP00000353874.2:n.4-51T>C | |
| ENST00000360658.2:c.4-51T>C | ENSP00000353874.2:n.4-51T>C | |
| ENST00000478201.1:c.223-96T>C | ||
| ENST00000494383.1:c.464-51T>C | ||
| NM_017442.3:c.4-51T>C | NP_059138.1:n.4-51T>C | |
| NM_017442.4:c.4-51T>C MANE Select | NP_059138.1:n.4-51T>C |