ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103253347T>C , CM000673.2:g.103253347T>C | GRCh38 |
| NC_000011.9:g.103124076T>C , CM000673.1:g.103124076T>C | GRCh37 |
| NC_000011.8:g.102629286T>C | NCBI36 |
| NG_016423.1:g.148917T>C | |
| NG_016423.2:g.148917T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.10126T>C MANE Plus Clinical | ENSP00000497174.1:p.Phe3376Leu | |
| ENST00000375735.7:c.10105T>C MANE Select | ENSP00000364887.2:p.Phe3369Leu | |
| ENST00000650373.1:c.10126T>C | ENSP00000497174.1:p.Phe3376Leu | |
| ENST00000334267.11:c.2205+118928T>C | ENSP00000334021.7:n.2205+118928T>C | |
| ENST00000375735.6:c.10105T>C | ENSP00000364887.2:p.Phe3369Leu | |
| ENST00000398093.7:c.10126T>C | ENSP00000381167.3:p.Phe3376Leu | |
| NM_001080463.1:c.10126T>C | NP_001073932.1:p.Phe3376Leu | |
| NM_001377.2:c.10105T>C | NP_001368.2:p.Phe3369Leu | |
| XM_006718903.2:c.10084T>C | XP_006718966.1:p.Phe3362Leu | |
| XM_017018291.1:c.10105T>C | XP_016873780.1:p.Phe3369Leu | |
| XM_017018292.1:c.9487T>C | XP_016873781.1:p.Phe3163Leu | |
| NM_001377.3:c.10105T>C MANE Select | NP_001368.2:p.Phe3369Leu | |
| NM_001080463.2:c.10126T>C MANE Plus Clinical | NP_001073932.1:p.Phe3376Leu |