Linked Data
ClinVar Variation Id:
208630
dbSNP Id:
rs143912947
ExAC:
13:24443458 G / A
gnomAD v2:
13-24443458-G-A
gnomAD v3:
13-23869319-G-A
gnomAD v4:
13-23869319-G-A
PubMed:
PMID:27799064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23869319G>A , CM000675.2:g.23869319G>A | GRCh38 |
| NC_000013.10:g.24443458G>A , CM000675.1:g.24443458G>A | GRCh37 |
| NC_000013.9:g.23341458G>A | NCBI36 |
| NG_052977.1:g.25130C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382172.4:c.916C>T MANE Select | ENSP00000371607.3:p.Leu306Phe | |
| ENST00000382172.3:c.916C>T | ENSP00000371607.3:p.Leu306Phe | |
| ENST00000494139.1:n.313C>T | ||
| NM_005932.3:c.916C>T | NP_005923.2:p.Leu306Phe | |
| XM_011535097.1:c.730C>T | XP_011533399.1:p.Leu244Phe | |
| XM_011535098.1:c.916C>T | XP_011533400.1:p.Leu306Phe | |
| XM_011535097.2:c.730C>T | XP_011533399.1:p.Leu244Phe | |
| XM_011535098.3:c.916C>T | XP_011533400.1:p.Leu306Phe | |
| NM_005932.4:c.916C>T MANE Select | NP_005923.3:p.Leu306Phe |