Linked Data
dbSNP Id:
rs112095561
ExAC:
3:172166051 C / T
gnomAD v2:
3-172166051-C-T
gnomAD v4:
3-172448261-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448261C>T , CM000665.2:g.172448261C>T | GRCh38 |
| NC_000003.11:g.172166051C>T , CM000665.1:g.172166051C>T | GRCh37 |
| NC_000003.10:g.173648745C>T | NCBI36 |
| NG_021159.1:g.5196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.153G>A MANE Select | ENSP00000241256.2:p.Val51= | |
| ENST00000241256.2:c.153G>A | ENSP00000241256.2:p.Val51= | |
| ENST00000427970.1:c.153G>A | ENSP00000395344.1:p.Val51= | |
| NM_004122.2:c.153G>A | NP_004113.1:p.Val51= | |
| NM_198407.2:c.153G>A MANE Select | NP_940799.1:p.Val51= |