Linked Data
dbSNP Id:
rs1458574165
gnomAD v2:
X-107811965-C-T
gnomAD v3:
X-108568735-C-T
gnomAD v4:
X-108568735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108568735C>T , CM000685.2:g.108568735C>T | GRCh38 |
| NC_000023.10:g.107811965C>T , CM000685.1:g.107811965C>T | GRCh37 |
| NC_000023.9:g.107698621C>T | NCBI36 |
| NG_011977.1:g.133812C>T | |
| NG_011977.2:g.133812C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.322-24C>T MANE Select | ENSP00000331902.7:n.322-24C>T | |
| ENST00000361603.7:c.322-24C>T | ENSP00000354505.2:n.322-24C>T | |
| ENST00000328300.10:c.322-24C>T | ENSP00000331902.6:n.322-24C>T | |
| ENST00000361603.6:c.322-24C>T | ENSP00000354505.2:n.322-24C>T | |
| ENST00000470339.1:n.506-24C>T | ||
| NM_000495.4:c.322-24C>T | NP_000486.1:n.322-24C>T | |
| NM_033380.2:c.322-24C>T | NP_203699.1:n.322-24C>T | |
| XM_005262070.2:c.322-24C>T | XP_005262127.1:n.322-24C>T | |
| XM_005262072.3:c.322-24C>T | XP_005262129.1:n.322-24C>T | |
| XM_006724616.2:c.322-24C>T | XP_006724679.1:n.322-24C>T | |
| XM_011530849.1:c.-3-24C>T | XP_011529151.1:n.-3-24C>T | |
| XM_011530850.1:c.322-24C>T | XP_011529152.1:n.322-24C>T | |
| XM_011530849.2:c.337-24C>T | XP_011529151.2:n.337-24C>T | |
| XM_017029259.2:c.337-24C>T | XP_016884748.1:n.337-24C>T | |
| XM_017029260.1:c.337-24C>T | XP_016884749.1:n.337-24C>T | |
| XM_017029261.1:c.337-24C>T | XP_016884750.1:n.337-24C>T | |
| XM_017029262.2:c.337-24C>T | XP_016884751.1:n.337-24C>T | |
| NM_000495.5:c.322-24C>T | NP_000486.1:n.322-24C>T | |
| NM_033380.3:c.322-24C>T MANE Select | NP_203699.1:n.322-24C>T |