Linked Data
dbSNP Id:
rs374557851
ExAC:
1:147380422 C / G
gnomAD v2:
1-147380422-C-G
gnomAD v3:
1-147908295-C-G
gnomAD v4:
1-147908295-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908295C>G , CM000663.2:g.147908295C>G | GRCh38 |
| NC_000001.10:g.147380422C>G , CM000663.1:g.147380422C>G | GRCh37 |
| NC_000001.9:g.145847046C>G | NCBI36 |
| NG_016242.1:g.10477C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.340C>G MANE Select | ENSP00000358238.1:p.Leu114Val | |
| ENST00000369235.1:c.340C>G | ENSP00000358238.1:p.Leu114Val | |
| NM_005267.4:c.340C>G | NP_005258.2:p.Leu114Val | |
| XM_011509416.1:c.340C>G | XP_011507718.1:p.Leu114Val | |
| XM_011509417.1:c.340C>G | XP_011507719.1:p.Leu114Val | |
| XM_011509417.2:c.340C>G | XP_011507719.1:p.Leu114Val | |
| XR_002956281.1:n.1255C>G | ||
| NM_005267.5:c.340C>G MANE Select | NP_005258.2:p.Leu114Val |