Linked Data
dbSNP Id:
rs775911832
ExAC:
4:187120204 G / C
gnomAD v2:
4-187120204-G-C
gnomAD v4:
4-186199050-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186199050G>C , CM000666.2:g.186199050G>C | GRCh38 |
| NC_000004.11:g.187120204G>C , CM000666.1:g.187120204G>C | GRCh37 |
| NC_000004.10:g.187357198G>C | NCBI36 |
| NG_007965.1:g.12531G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.768G>C MANE Select | ENSP00000368079.4:p.Lys256Asn | |
| ENST00000378802.4:c.768G>C | ENSP00000368079.4:p.Lys256Asn | |
| ENST00000507209.5:n.1609G>C | ||
| NM_207352.3:c.768G>C | NP_997235.3:p.Lys256Asn | |
| XM_005262935.2:c.768G>C | XP_005262992.1:p.Lys256Asn | |
| XM_006714184.2:c.372G>C | XP_006714247.1:p.Lys124Asn | |
| XM_005262935.4:c.768G>C | XP_005262992.1:p.Lys256Asn | |
| XM_017008037.1:c.372G>C | XP_016863526.1:p.Lys124Asn | |
| NM_207352.4:c.768G>C MANE Select | NP_997235.3:p.Lys256Asn |