Linked Data
ClinVar Variation Id:
318975
ClinVar RCV Id:
RCV000350087
dbSNP Id:
rs7200749
ExAC:
16:31102589 G / A
gnomAD v2:
16-31102589-G-A
gnomAD v3:
16-31091268-G-A
gnomAD v4:
16-31091268-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31091268G>A , CM000678.2:g.31091268G>A | GRCh38 |
| NC_000016.9:g.31102589G>A , CM000678.1:g.31102589G>A | GRCh37 |
| NC_000016.8:g.31010090G>A | NCBI36 |
| NG_011564.1:g.8688C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.358C>T MANE Select | ENSP00000378426.2:p.Leu120= | |
| ENST00000300851.10:c.419C>T | ENSP00000300851.6:p.Pro140Leu | |
| ENST00000319788.11:c.440C>T | ENSP00000326135.7:p.Pro147Leu | |
| ENST00000354895.4:c.248C>T | ENSP00000346969.4:p.Pro83Leu | |
| ENST00000394971.7:c.452C>T | ENSP00000378422.3:p.Pro151Leu | |
| ENST00000394975.2:c.358C>T | ENSP00000378426.2:p.Leu120= | |
| ENST00000420057.2:c.320C>T | ||
| ENST00000472468.1:c.43C>T | ENSP00000458994.1:p.Leu15= | |
| ENST00000498155.1:c.455C>T | ENSP00000417662.1:p.Pro152Leu | |
| ENST00000529564.1:c.283+2044C>T | ENSP00000431371.1:n.283+2044C>T | |
| ENST00000532364.1:c.173+3289C>T | ENSP00000460316.1:n.173+3289C>T | |
| ENST00000533518.5:c.231C>T | ||
| NM_001311311.1:c.442C>T | NP_001298240.1:p.Leu148= | |
| NM_024006.4:c.358C>T | NP_076869.1:p.Leu120= | |
| NM_024006.5:c.358C>T | NP_076869.1:p.Leu120= | |
| NM_206824.1:c.248C>T | NP_996560.1:p.Pro83Leu | |
| NM_206824.2:c.248C>T | NP_996560.1:p.Pro83Leu | |
| XM_011545944.1:c.358C>T | XP_011544246.1:p.Leu120= | |
| XM_011545945.1:c.248C>T | XP_011544247.1:p.Pro83Leu | |
| XR_950848.1:n.1146C>T | ||
| NM_024006.6:c.358C>T MANE Select | NP_076869.1:p.Leu120= | |
| NM_001311311.2:c.442C>T | NP_001298240.1:p.Leu148= | |
| NM_206824.3:c.248C>T | NP_996560.1:p.Pro83Leu |