Linked Data
dbSNP Id:
rs750832505
ExAC:
14:37132534 A / C
gnomAD v2:
14-37132534-A-C
gnomAD v4:
14-36663329-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663329A>C , CM000676.2:g.36663329A>C | GRCh38 |
| NC_000014.8:g.37132534A>C , CM000676.1:g.37132534A>C | GRCh37 |
| NC_000014.7:g.36202285A>C | NCBI36 |
| NG_013357.1:g.10762A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.437A>C MANE Select | ENSP00000355245.6:p.His146Pro | |
| ENST00000361487.6:c.437A>C | ENSP00000355245.6:p.His146Pro | |
| ENST00000402703.6:c.437A>C | ENSP00000384817.2:p.His146Pro | |
| ENST00000554201.1:c.-125A>C | ENSP00000450434.1:n.-125A>C | |
| NM_006194.3:c.437A>C | NP_006185.1:p.His146Pro | |
| NM_001372076.1:c.437A>C MANE Select | NP_001359005.1:p.His146Pro | |
| NM_006194.4:c.437A>C | NP_006185.1:p.His146Pro |