Linked Data
dbSNP Id:
rs113994011
ExAC:
14:75471592 C / T
gnomAD v2:
14-75471592-C-T
gnomAD v3:
14-75004889-C-T
gnomAD v4:
14-75004889-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75004889C>T , CM000676.2:g.75004889C>T | GRCh38 |
| NC_000014.8:g.75471592C>T , CM000676.1:g.75471592C>T | GRCh37 |
| NC_000014.7:g.74541345C>T | NCBI36 |
| NG_013333.1:g.6981C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266126.10:c.586C>T MANE Select | ENSP00000266126.5:p.Pro196Ser | |
| ENST00000266126.9:c.586C>T | ENSP00000266126.5:p.Pro196Ser | |
| ENST00000553401.5:c.559C>T | ENSP00000451681.1:p.Pro187Ser | |
| ENST00000553539.1:n.881C>T | ||
| ENST00000555522.1:n.644C>T | ||
| ENST00000556028.5:c.586C>T | ENSP00000452311.1:p.Pro196Ser | |
| NM_014239.3:c.586C>T | NP_055054.1:p.Pro196Ser | |
| NM_014239.4:c.586C>T MANE Select | NP_055054.1:p.Pro196Ser |