Linked Data
dbSNP Id:
rs1460876704
gnomAD v2:
4-187120155-G-C
gnomAD v3:
4-186199001-G-C
gnomAD v4:
4-186199001-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186199001G>C , CM000666.2:g.186199001G>C | GRCh38 |
| NC_000004.11:g.187120155G>C , CM000666.1:g.187120155G>C | GRCh37 |
| NC_000004.10:g.187357149G>C | NCBI36 |
| NG_007965.1:g.12482G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.719G>C MANE Select | ENSP00000368079.4:p.Trp240Ser | |
| ENST00000378802.4:c.719G>C | ENSP00000368079.4:p.Trp240Ser | |
| ENST00000507209.5:n.1560G>C | ||
| NM_207352.3:c.719G>C | NP_997235.3:p.Trp240Ser | |
| XM_005262935.2:c.719G>C | XP_005262992.1:p.Trp240Ser | |
| XM_006714184.2:c.323G>C | XP_006714247.1:p.Trp108Ser | |
| XM_005262935.4:c.719G>C | XP_005262992.1:p.Trp240Ser | |
| XM_017008037.1:c.323G>C | XP_016863526.1:p.Trp108Ser | |
| NM_207352.4:c.719G>C MANE Select | NP_997235.3:p.Trp240Ser |