Linked Data
dbSNP Id:
rs746358974
ExAC:
9:130587991 C / G
gnomAD v2:
9-130587991-C-G
gnomAD v4:
9-127825712-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825712C>G , CM000671.2:g.127825712C>G | GRCh38 |
| NC_000009.11:g.130587991C>G , CM000671.1:g.130587991C>G | GRCh37 |
| NC_000009.10:g.129627812C>G | NCBI36 |
| NG_009551.1:g.34057G>C , LRG_589:g.34057G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.126G>C | ENSP00000479015.1:p.Leu42= | |
| ENST00000373203.9:c.672G>C MANE Select | ENSP00000362299.4:p.Leu224= | |
| ENST00000344849.4:c.672G>C | ENSP00000341917.3:p.Leu224= | |
| ENST00000373203.8:c.672G>C | ENSP00000362299.4:p.Leu224= | |
| ENST00000480266.5:c.126G>C | ENSP00000479015.1:p.Leu42= | |
| NM_000118.3:c.672G>C , LRG_589t1:c.672G>C | NP_000109.1:p.Leu224= | |
| NM_001114753.2:c.672G>C , LRG_589t2:c.672G>C | NP_001108225.1:p.Leu224= | |
| NM_001278138.1:c.126G>C | NP_001265067.1:p.Leu42= | |
| XR_001746952.2:n.82+254C>G | ||
| NM_001114753.3:c.672G>C MANE Select | NP_001108225.1:p.Leu224= | |
| NM_001278138.2:c.126G>C | NP_001265067.1:p.Leu42= |