Linked Data
dbSNP Id:
rs773049609
ExAC:
4:155526064 C / G
gnomAD v2:
4-155526064-C-G
gnomAD v3:
4-154604912-C-G
gnomAD v4:
4-154604912-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604912C>G , CM000666.2:g.154604912C>G | GRCh38 |
| NC_000004.11:g.155526064C>G , CM000666.1:g.155526064C>G | GRCh37 |
| NC_000004.10:g.155745514C>G | NCBI36 |
| NG_008834.1:g.12839G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1284G>C MANE Select | ENSP00000336829.3:p.Leu428= | |
| ENST00000336098.7:c.1284G>C | ENSP00000336829.3:p.Leu428= | |
| ENST00000404648.7:c.1284G>C | ENSP00000384860.3:p.Leu428= | |
| ENST00000405164.5:c.1308G>C | ENSP00000384101.1:p.Leu436= | |
| ENST00000407946.5:c.1308G>C | ENSP00000384552.1:p.Leu436= | |
| ENST00000465913.1:n.832G>C | ||
| ENST00000492082.5:n.1826G>C | ||
| NM_000509.4:c.1284G>C | NP_000500.2:p.Leu428= | |
| NM_000509.5:c.1284G>C | NP_000500.2:p.Leu428= | |
| NM_021870.2:c.1284G>C | NP_068656.2:p.Leu428= | |
| NM_021870.3:c.1284G>C MANE Select | NP_068656.2:p.Leu428= | |
| NM_000509.6:c.1284G>C | NP_000500.2:p.Leu428= |