Linked Data
dbSNP Id:
rs761792362
ExAC:
3:172166088 G / T
gnomAD v2:
3-172166088-G-T
gnomAD v4:
3-172448298-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448298G>T , CM000665.2:g.172448298G>T | GRCh38 |
| NC_000003.11:g.172166088G>T , CM000665.1:g.172166088G>T | GRCh37 |
| NC_000003.10:g.173648782G>T | NCBI36 |
| NG_021159.1:g.5159C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.116C>A MANE Select | ENSP00000241256.2:p.Pro39His | |
| ENST00000241256.2:c.116C>A | ENSP00000241256.2:p.Pro39His | |
| ENST00000427970.1:c.116C>A | ENSP00000395344.1:p.Pro39His | |
| NM_004122.2:c.116C>A | NP_004113.1:p.Pro39His | |
| NM_198407.2:c.116C>A MANE Select | NP_940799.1:p.Pro39His |