Linked Data
dbSNP Id:
rs770459499
ExAC:
4:187115785 G / C
gnomAD v2:
4-187115785-G-C
gnomAD v4:
4-186194631-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194631G>C , CM000666.2:g.186194631G>C | GRCh38 |
| NC_000004.11:g.187115785G>C , CM000666.1:g.187115785G>C | GRCh37 |
| NC_000004.10:g.187352779G>C | NCBI36 |
| NG_007965.1:g.8112G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.327+19G>C MANE Select | ENSP00000368079.4:n.327+19G>C | |
| ENST00000378802.4:c.327+19G>C | ENSP00000368079.4:n.327+19G>C | |
| NM_207352.3:c.327+19G>C | NP_997235.3:n.327+19G>C | |
| XM_005262935.2:c.327+19G>C | XP_005262992.1:n.327+19G>C | |
| XM_006714184.2:c.17+19G>C | XP_006714247.1:n.17+19G>C | |
| XM_005262935.4:c.327+19G>C | XP_005262992.1:n.327+19G>C | |
| XM_017008037.1:c.17+19G>C | XP_016863526.1:n.17+19G>C | |
| NM_207352.4:c.327+19G>C MANE Select | NP_997235.3:n.327+19G>C |