ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103479135T>C , CM000673.2:g.103479135T>C | GRCh38 |
| NC_000011.9:g.103349863T>C , CM000673.1:g.103349863T>C | GRCh37 |
| NC_000011.8:g.102855073T>C | NCBI36 |
| NG_016423.1:g.374704T>C | |
| NG_016423.2:g.374705T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.12827T>C MANE Plus Clinical | ENSP00000497174.1:p.Leu4276Ser | |
| ENST00000375735.7:c.12806T>C MANE Select | ENSP00000364887.2:p.Leu4269Ser | |
| ENST00000650373.1:c.12827T>C | ENSP00000497174.1:p.Leu4276Ser | |
| ENST00000334267.11:c.2645T>C | ENSP00000334021.7:p.Leu882Ser | |
| ENST00000375735.6:c.12806T>C | ENSP00000364887.2:p.Leu4269Ser | |
| ENST00000398093.7:c.12827T>C | ENSP00000381167.3:p.Leu4276Ser | |
| ENST00000527252.1:n.358T>C | ||
| ENST00000528670.5:c.1989T>C | ENSP00000433451.1:n.1989T>C | |
| ENST00000530547.1:n.537T>C | ||
| ENST00000533197.1:c.557T>C | ENSP00000436736.1:p.Leu186Ser | |
| NM_001080463.1:c.12827T>C | NP_001073932.1:p.Leu4276Ser | |
| NM_001377.2:c.12806T>C | NP_001368.2:p.Leu4269Ser | |
| XM_006718903.2:c.12785T>C | XP_006718966.1:p.Leu4262Ser | |
| XM_017018291.1:c.12596T>C | XP_016873780.1:p.Leu4199Ser | |
| XM_017018292.1:c.12188T>C | XP_016873781.1:p.Leu4063Ser | |
| NM_001377.3:c.12806T>C MANE Select | NP_001368.2:p.Leu4269Ser | |
| NM_001080463.2:c.12827T>C MANE Plus Clinical | NP_001073932.1:p.Leu4276Ser |