Linked Data
dbSNP Id:
rs920591379
gnomAD v2:
4-100048447-T-C
gnomAD v3:
4-99127296-T-C
gnomAD v4:
4-99127296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99127296T>C , CM000666.2:g.99127296T>C | GRCh38 |
| NC_000004.11:g.100048447T>C , CM000666.1:g.100048447T>C | GRCh37 |
| NC_000004.10:g.100267470T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265512.12:c.892A>G MANE Select | ENSP00000265512.7:p.Ile298Val | |
| ENST00000265512.11:c.892A>G | ENSP00000265512.7:p.Ile298Val | |
| ENST00000505590.5:c.949A>G | ENSP00000425416.1:p.Ile317Val | |
| ENST00000506705.5:c.*866A>G | ENSP00000426667.1:n.*866A>G | |
| ENST00000508393.5:c.949A>G | ENSP00000424630.1:p.Ile317Val | |
| ENST00000509471.5:c.334-564A>G | ENSP00000424583.1:n.334-564A>G | |
| ENST00000629236.2:c.892A>G | ENSP00000486450.1:p.Ile298Val | |
| NM_000670.3:c.892A>G | NP_000661.2:p.Ile298Val | |
| NM_000670.4:c.892A>G | NP_000661.2:p.Ile298Val | |
| NM_001306171.1:c.949A>G | NP_001293100.1:p.Ile317Val | |
| NM_001306172.1:c.949A>G | NP_001293101.1:p.Ile317Val | |
| NR_037884.1:n.429-6259T>C | ||
| XR_938685.1:n.1120A>G | ||
| XR_938686.1:n.1111A>G | ||
| XR_938687.1:n.984A>G | ||
| NM_000670.5:c.892A>G MANE Select | NP_000661.2:p.Ile298Val | |
| NM_001306171.2:c.949A>G | NP_001293100.1:p.Ile317Val | |
| NM_001306172.2:c.949A>G | NP_001293101.1:p.Ile317Val |