Linked Data
ClinVar Variation Id:
497624
dbSNP Id:
rs201603238
ExAC:
10:90987989 G / C
gnomAD v2:
10-90987989-G-C
gnomAD v3:
10-89228232-G-C
gnomAD v4:
10-89228232-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89228232G>C , CM000672.2:g.89228232G>C | GRCh38 |
| NC_000010.10:g.90987989G>C , CM000672.1:g.90987989G>C | GRCh37 |
| NC_000010.9:g.90977969G>C | NCBI36 |
| NG_008194.1:g.28672C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.396C>G MANE Select | ENSP00000337354.5:p.Leu132= | |
| ENST00000282673.5:c.396C>G | ENSP00000282673.4:p.Leu132= | |
| ENST00000336233.9:c.396C>G | ENSP00000337354.5:p.Leu132= | |
| ENST00000371837.5:c.228C>G | ENSP00000360903.1:p.Leu76= | |
| ENST00000428800.5:c.396C>G | ENSP00000388415.1:p.Leu132= | |
| ENST00000456827.5:c.48C>G | ENSP00000413019.2:p.Leu16= | |
| NM_000235.3:c.396C>G | NP_000226.2:p.Leu132= | |
| NM_001127605.2:c.396C>G | NP_001121077.1:p.Leu132= | |
| NM_001288979.1:c.48C>G | NP_001275908.1:p.Leu16= | |
| XM_024448023.1:c.396C>G | XP_024303791.1:p.Leu132= | |
| NM_000235.4:c.396C>G MANE Select | NP_000226.2:p.Leu132= | |
| NM_001127605.3:c.396C>G | NP_001121077.1:p.Leu132= | |
| NM_001288979.2:c.48C>G | NP_001275908.1:p.Leu16= |