Linked Data
dbSNP Id:
rs754711911
ExAC:
14:75475846 C / T
gnomAD v2:
14-75475846-C-T
gnomAD v3:
14-75009143-C-T
gnomAD v4:
14-75009143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009143C>T , CM000676.2:g.75009143C>T | GRCh38 |
| NC_000014.8:g.75475846C>T , CM000676.1:g.75475846C>T | GRCh37 |
| NC_000014.7:g.74545599C>T | NCBI36 |
| NG_013333.1:g.11235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.1011C>T MANE Select | ENSP00000266126.5:p.Tyr337= | |
| ENST00000266126.9:c.1011C>T | ENSP00000266126.5:p.Tyr337= | |
| ENST00000556668.1:n.591C>T | ||
| NM_014239.3:c.1011C>T | NP_055054.1:p.Tyr337= | |
| NM_014239.4:c.1011C>T MANE Select | NP_055054.1:p.Tyr337= |