Linked Data
ClinVar Variation Id:
242484
dbSNP Id:
rs76066357
ExAC:
17:42463054 G / C
gnomAD v2:
17-42463054-G-C
gnomAD v3:
17-44385686-G-C
gnomAD v4:
17-44385686-G-C
ERepo:
CA351291/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385686G>C , CM000679.2:g.44385686G>C | GRCh38 |
| NC_000017.10:g.42463054G>C , CM000679.1:g.42463054G>C | GRCh37 |
| NC_000017.9:g.39818580G>C | NCBI36 |
| NG_008331.1:g.8820C>G , LRG_479:g.8820C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.439C>G MANE Select | ENSP00000262407.5:p.Leu147Val | |
| ENST00000262407.5:c.439C>G | ENSP00000262407.5:p.Leu147Val | |
| ENST00000592944.1:n.124C>G | ||
| NM_000419.3:c.439C>G , LRG_479t1:c.439C>G | NP_000410.2:p.Leu147Val | |
| XM_011524749.1:c.439C>G | XP_011523051.1:p.Leu147Val | |
| XM_011524750.1:c.439C>G | XP_011523052.1:p.Leu147Val | |
| NM_000419.4:c.439C>G | NP_000410.2:p.Leu147Val | |
| NM_000419.5:c.439C>G MANE Select | NP_000410.2:p.Leu147Val |