Linked Data
dbSNP Id:
rs119774
gnomAD v2:
16-16086833-C-T
gnomAD v3:
16-15992976-C-T
gnomAD v4:
16-15992976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15992976C>T , CM000678.2:g.15992976C>T | GRCh38 |
| NC_000016.9:g.16086833C>T , CM000678.1:g.16086833C>T | GRCh37 |
| NC_000016.8:g.15994334C>T | NCBI36 |
| NG_028268.1:g.48400C>T | |
| NG_028268.2:g.48400C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399408.7:c.49-14840C>T | ENSP00000382340.4:n.49-14840C>T | |
| ENST00000399410.8:c.49-14840C>T MANE Select | ENSP00000382342.3:n.49-14840C>T | |
| ENST00000572882.3:c.49-14840C>T | ENSP00000461615.2:n.49-14840C>T | |
| ENST00000574224.2:n.124-14840C>T | ||
| ENST00000677164.1:c.49-14840C>T | ENSP00000502873.1:n.49-14840C>T | |
| ENST00000678422.1:c.49-14840C>T | ENSP00000503954.1:n.49-14840C>T | |
| ENST00000399408.6:c.-930-14840C>T | ENSP00000382340.3:n.-930-14840C>T | |
| ENST00000399410.7:c.49-14840C>T | ENSP00000382342.3:n.49-14840C>T | |
| NM_004996.3:c.49-14840C>T | NP_004987.2:n.49-14840C>T | |
| XM_011522498.1:c.102+724C>T | XP_011520800.1:n.102+724C>T | |
| XM_011522498.2:c.102+724C>T | XP_011520800.1:n.102+724C>T | |
| XM_017023237.1:c.102+724C>T | XP_016878726.1:n.102+724C>T | |
| XM_017023238.1:c.102+724C>T | XP_016878727.1:n.102+724C>T | |
| XM_017023239.1:c.102+724C>T | XP_016878728.1:n.102+724C>T | |
| XM_017023240.1:c.102+724C>T | XP_016878729.1:n.102+724C>T | |
| XM_017023241.1:c.102+724C>T | XP_016878730.1:n.102+724C>T | |
| XM_017023242.1:c.102+724C>T | XP_016878731.1:n.102+724C>T | |
| XM_017023243.2:c.102+724C>T | XP_016878732.1:n.102+724C>T | |
| NM_004996.4:c.49-14840C>T MANE Select | NP_004987.2:n.49-14840C>T |