Linked Data
dbSNP Id:
rs767072821
ExAC:
16:1412007 C / T
gnomAD v2:
16-1412007-C-T
gnomAD v3:
16-1362006-C-T
gnomAD v4:
16-1362006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362006C>T , CM000678.2:g.1362006C>T | GRCh38 |
| NC_000016.9:g.1412007C>T , CM000678.1:g.1412007C>T | GRCh37 |
| NC_000016.8:g.1352008C>T | NCBI36 |
| NG_016985.1:g.15108C>T | |
| NG_033129.1:g.57699G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.417-32C>T | ||
| ENST00000529110.2:c.402-32C>T | ENSP00000435349.2:n.402-32C>T | |
| ENST00000529957.6:n.376-32C>T | ||
| ENST00000683366.1:c.*50-32C>T | ENSP00000507283.1:n.*50-32C>T | |
| ENST00000683887.1:c.366-32C>T | ENSP00000506886.1:n.366-32C>T | |
| ENST00000684100.1:n.312-32C>T | ||
| ENST00000684126.1:n.376-32C>T | ||
| ENST00000684688.1:n.943-32C>T | ||
| ENST00000204679.9:c.318-32C>T MANE Select | ENSP00000204679.4:n.318-32C>T | |
| ENST00000204679.8:c.318-32C>T | ENSP00000204679.4:n.318-32C>T | |
| ENST00000526820.5:c.*220-32C>T | ENSP00000434413.1:n.*220-32C>T | |
| ENST00000527076.1:n.1334-32C>T | ||
| ENST00000527168.5:n.354-32C>T | ||
| ENST00000529110.1:c.385-32C>T | ||
| ENST00000529957.5:n.417-32C>T | ||
| NM_032520.4:c.318-32C>T | NP_115909.1:n.318-32C>T | |
| XM_017023782.1:c.366-32C>T | XP_016879271.1:n.366-32C>T | |
| XM_017023783.1:c.-43-32C>T | XP_016879272.1:n.-43-32C>T | |
| NM_032520.5:c.318-32C>T MANE Select | NP_115909.1:n.318-32C>T |