Linked Data
dbSNP Id:
rs759030360
ExAC:
19:41354160 T / C
gnomAD v2:
19-41354160-T-C
gnomAD v3:
19-40848255-T-C
gnomAD v4:
19-40848255-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848255T>C , CM000681.2:g.40848255T>C | GRCh38 |
| NC_000019.9:g.41354160T>C , CM000681.1:g.41354160T>C | GRCh37 |
| NC_000019.8:g.46046000T>C | NCBI36 |
| NG_008377.1:g.7193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.618A>G MANE Select | ENSP00000301141.4:p.Leu206= | |
| ENST00000301141.9:c.618A>G | ENSP00000301141.4:p.Leu206= | |
| ENST00000596719.5:n.469A>G | ||
| ENST00000600495.1:c.*430A>G | ENSP00000472905.1:n.*430A>G | |
| ENST00000601627.1:c.120-43736T>C | ||
| ENST00000610301.1:c.618A>G | ENSP00000477899.1:p.Leu206= | |
| NM_000762.5:c.618A>G | NP_000753.3:p.Leu206= | |
| NM_000762.6:c.618A>G MANE Select | NP_000753.3:p.Leu206= |