Linked Data
dbSNP Id:
rs541827684
ExAC:
3:119133225 C / G
gnomAD v2:
3-119133225-C-G
gnomAD v3:
3-119414378-C-G
gnomAD v4:
3-119414378-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414378C>G , CM000665.2:g.119414378C>G | GRCh38 |
| NC_000003.11:g.119133225C>G , CM000665.1:g.119133225C>G | GRCh37 |
| NC_000003.10:g.120615915C>G | NCBI36 |
| NG_007665.2:g.125006C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2449C>G MANE Select | ENSP00000264245.4:p.Leu817Val | |
| ENST00000264245.8:c.2449C>G | ENSP00000264245.4:p.Leu817Val | |
| NM_020754.3:c.2449C>G | NP_065805.2:p.Leu817Val | |
| XM_005247671.3:c.2356C>G | XP_005247728.1:p.Leu786Val | |
| XM_006713714.2:c.2389C>G | XP_006713777.1:p.Leu797Val | |
| XM_006713714.3:c.2389C>G | XP_006713777.1:p.Leu797Val | |
| XM_017006955.1:c.1957C>G | XP_016862444.1:p.Leu653Val | |
| NM_020754.4:c.2449C>G MANE Select | NP_065805.2:p.Leu817Val |