Linked Data
dbSNP Id:
rs751672802
ExAC:
4:88533768 G / C
gnomAD v2:
4-88533768-G-C
gnomAD v4:
4-87612616-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612616G>C , CM000666.2:g.87612616G>C | GRCh38 |
| NC_000004.11:g.88533768G>C , CM000666.1:g.88533768G>C | GRCh37 |
| NC_000004.10:g.88752792G>C | NCBI36 |
| NG_011595.1:g.9088G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.430G>C MANE Select | ENSP00000498766.1:p.Asp144His | |
| ENST00000282478.7:c.430G>C | ENSP00000282478.7:p.Asp144His | |
| ENST00000399271.5:c.430G>C | ENSP00000382213.1:p.Asp144His | |
| NM_014208.3:c.430G>C MANE Select | NP_055023.2:p.Asp144His |