Linked Data
dbSNP Id:
rs17128941
ExAC:
14:93685097 C / T
gnomAD v2:
14-93685097-C-T
gnomAD v3:
14-93218751-C-T
gnomAD v4:
14-93218751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218751C>T , CM000676.2:g.93218751C>T | GRCh38 |
| NC_000014.8:g.93685097C>T , CM000676.1:g.93685097C>T | GRCh37 |
| NC_000014.7:g.92754850C>T | NCBI36 |
| NG_051089.1:g.16696C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000013070.11:c.810+16C>T MANE Select | ENSP00000013070.6:n.810+16C>T | |
| ENST00000013070.10:c.810+16C>T | ENSP00000013070.6:n.810+16C>T | |
| ENST00000416753.5:c.582+16C>T | ENSP00000391706.2:n.582+16C>T | |
| ENST00000553674.1:c.*511+16C>T | ENSP00000450470.1:n.*511+16C>T | |
| ENST00000553857.5:c.378+3470C>T | ||
| ENST00000555329.1:c.55+16C>T | ||
| NM_175748.3:c.810+16C>T | NP_786924.2:n.810+16C>T | |
| NR_038150.1:n.912+16C>T | ||
| NM_175748.4:c.810+16C>T MANE Select | NP_786924.2:n.810+16C>T | |
| NR_038150.2:n.712+16C>T |