Linked Data
dbSNP Id:
rs10514345
gnomAD v2:
5-90424279-C-T
gnomAD v3:
5-91128462-C-T
gnomAD v4:
5-91128462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.91128462C>T , CM000667.2:g.91128462C>T | GRCh38 |
| NC_000005.9:g.90424279C>T , CM000667.1:g.90424279C>T | GRCh37 |
| NC_000005.8:g.90460035C>T | NCBI36 |
| NG_007083.1:g.574663C>T | |
| NG_007083.2:g.604119C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.18433-21568C>T MANE Select | ENSP00000384582.2:n.18433-21568C>T | |
| ENST00000425867.3:c.7387-21568C>T | ENSP00000392618.3:n.7387-21568C>T | |
| ENST00000638510.1:n.5700-21568C>T | ||
| ENST00000638990.1:c.1645-21568C>T | ||
| ENST00000639212.1:n.353-21568C>T | ||
| ENST00000639530.1:n.301-21568C>T | ||
| ENST00000639821.1:c.516+26122C>T | ENSP00000492216.1:n.516+26122C>T | |
| ENST00000640256.1:n.301-24759C>T | ||
| ENST00000640407.1:c.4882-21568C>T | ENSP00000491425.1:n.4882-21568C>T | |
| ENST00000640815.1:c.517-21568C>T | ENSP00000491767.1:n.517-21568C>T | |
| ENST00000405460.6:c.18433-21568C>T | ENSP00000384582.2:n.18433-21568C>T | |
| ENST00000425867.2:c.5416-21568C>T | ENSP00000392618.2:n.5416-21568C>T | |
| NM_032119.3:c.18433-21568C>T | NP_115495.3:n.18433-21568C>T | |
| NR_003149.1:n.18446-21568C>T | ||
| XM_011543675.1:c.18430-21568C>T | XP_011541977.1:n.18430-21568C>T | |
| XM_011543676.1:c.18352-21568C>T | XP_011541978.1:n.18352-21568C>T | |
| XM_011543677.1:c.15736-21568C>T | XP_011541979.1:n.15736-21568C>T | |
| NM_032119.4:c.18433-21568C>T MANE Select | NP_115495.3:n.18433-21568C>T | |
| XM_017009963.2:c.18454-21568C>T | XP_016865452.1:n.18454-21568C>T | |
| XM_017009964.2:c.18451-21568C>T | XP_016865453.1:n.18451-21568C>T | |
| XM_017009965.1:c.18451-21568C>T | XP_016865454.1:n.18451-21568C>T | |
| XM_017009966.2:c.18373-21568C>T | XP_016865455.1:n.18373-21568C>T | |
| XM_017009967.1:c.18358-21568C>T | XP_016865456.1:n.18358-21568C>T | |
| XM_017009968.2:c.18274-21568C>T | XP_016865457.1:n.18274-21568C>T | |
| XM_017009969.2:c.18453+26122C>T | XP_016865458.1:n.18453+26122C>T | |
| XM_017009972.1:c.11572-21568C>T | XP_016865461.1:n.11572-21568C>T | |
| XM_017009973.1:c.11551-21568C>T | XP_016865462.1:n.11551-21568C>T | |
| NR_003149.2:n.18449-21568C>T |