Linked Data
dbSNP Id:
rs779397565
ExAC:
3:172166036 C / T
gnomAD v2:
3-172166036-C-T
gnomAD v4:
3-172448246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448246C>T , CM000665.2:g.172448246C>T | GRCh38 |
| NC_000003.11:g.172166036C>T , CM000665.1:g.172166036C>T | GRCh37 |
| NC_000003.10:g.173648730C>T | NCBI36 |
| NG_021159.1:g.5211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.168G>A MANE Select | ENSP00000241256.2:p.Val56= | |
| ENST00000241256.2:c.168G>A | ENSP00000241256.2:p.Val56= | |
| ENST00000427970.1:c.168G>A | ENSP00000395344.1:p.Val56= | |
| NM_004122.2:c.168G>A | NP_004113.1:p.Val56= | |
| NM_198407.2:c.168G>A MANE Select | NP_940799.1:p.Val56= |