Linked Data
dbSNP Id:
rs368058295
ExAC:
4:187115633 A / C
gnomAD v3:
4-186194479-A-C
gnomAD v4:
4-186194479-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194479A>C , CM000666.2:g.186194479A>C | GRCh38 |
| NC_000004.11:g.187115633A>C , CM000666.1:g.187115633A>C | GRCh37 |
| NC_000004.10:g.187352627A>C | NCBI36 |
| NG_007965.1:g.7960A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.215-21A>C MANE Select | ENSP00000368079.4:n.215-21A>C | |
| ENST00000378802.4:c.215-21A>C | ENSP00000368079.4:n.215-21A>C | |
| NM_207352.3:c.215-21A>C | NP_997235.3:n.215-21A>C | |
| XM_005262935.2:c.215-21A>C | XP_005262992.1:n.215-21A>C | |
| XM_005262935.4:c.215-21A>C | XP_005262992.1:n.215-21A>C | |
| XM_017008037.1:c.-96-21A>C | XP_016863526.1:n.-96-21A>C | |
| NM_207352.4:c.215-21A>C MANE Select | NP_997235.3:n.215-21A>C |