Linked Data
dbSNP Id:
rs1284635680
gnomAD v2:
4-5620369-G-C
gnomAD v3:
4-5618642-G-C
gnomAD v4:
4-5618642-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5618642G>C , CM000666.2:g.5618642G>C | GRCh38 |
| NC_000004.11:g.5620369G>C , CM000666.1:g.5620369G>C | GRCh37 |
| NC_000004.10:g.5671270G>C | NCBI36 |
| NG_015821.1:g.95907C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2542C>G MANE Select | ENSP00000342144.5:p.Leu848Val | |
| ENST00000310917.6:c.2302C>G | ENSP00000311683.2:p.Leu768Val | |
| ENST00000344408.9:c.2542C>G | ENSP00000342144.5:p.Leu848Val | |
| ENST00000475313.5:c.2302C>G | ENSP00000431981.1:p.Leu768Val | |
| ENST00000509670.1:c.*935C>G | ENSP00000423876.1:n.*935C>G | |
| NM_001166136.1:c.2302C>G | NP_001159608.1:p.Leu768Val | |
| NM_147127.4:c.2542C>G | NP_667338.3:p.Leu848Val | |
| XM_011513392.1:c.2551C>G | XP_011511694.1:p.Leu851Val | |
| XM_011513393.1:c.2551C>G | XP_011511695.1:p.Leu851Val | |
| XM_011513394.1:c.2311C>G | XP_011511696.1:p.Leu771Val | |
| XM_017007736.1:c.2302C>G | XP_016863225.1:p.Leu768Val | |
| XM_017007737.1:c.2302C>G | XP_016863226.1:p.Leu768Val | |
| XM_017007738.1:c.2542C>G | XP_016863227.1:p.Leu848Val | |
| XM_017007739.1:c.862C>G | XP_016863228.1:p.Leu288Val | |
| XM_024453893.1:c.862C>G | XP_024309661.1:p.Leu288Val | |
| XR_001741141.1:n.2607C>G | ||
| NM_147127.5:c.2542C>G MANE Select | NP_667338.3:p.Leu848Val | |
| NM_001166136.2:c.2302C>G | NP_001159608.1:p.Leu768Val |