Linked Data
dbSNP Id:
rs755102943
ExAC:
4:6304067 A / C
gnomAD v2:
4-6304067-A-C
gnomAD v3:
4-6302340-A-C
gnomAD v4:
4-6302340-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302340A>C , CM000666.2:g.6302340A>C | GRCh38 |
| NC_000004.11:g.6304067A>C , CM000666.1:g.6304067A>C | GRCh37 |
| NC_000004.10:g.6354968A>C | NCBI36 |
| NG_011700.1:g.37491A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2581A>C | ENSP00000507852.1:p.Asn861His | |
| ENST00000683395.1:c.2522A>C | ||
| ENST00000684087.1:c.2545A>C | ENSP00000506978.1:p.Asn849His | |
| ENST00000506362.2:c.2296A>C | ENSP00000424103.2:p.Asn766His | |
| ENST00000673991.1:c.2581A>C | ENSP00000501033.1:p.Asn861His | |
| ENST00000226760.5:c.2545A>C MANE Select | ENSP00000226760.1:p.Asn849His | |
| ENST00000503569.5:c.2545A>C | ENSP00000423337.1:p.Asn849His | |
| ENST00000507765.1:n.2730A>C | ||
| NM_001145853.1:c.2545A>C | NP_001139325.1:p.Asn849His | |
| NM_006005.3:c.2545A>C MANE Select | NP_005996.2:p.Asn849His | |
| XM_017008586.1:c.2554A>C | XP_016864075.1:p.Asn852His |