Linked Data
dbSNP Id:
rs547116691
ExAC:
19:18710474 G / C
gnomAD v2:
19-18710474-G-C
gnomAD v3:
19-18599664-G-C
gnomAD v4:
19-18599664-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599664G>C , CM000681.2:g.18599664G>C | GRCh38 |
| NC_000019.9:g.18710474G>C , CM000681.1:g.18710474G>C | GRCh37 |
| NC_000019.8:g.18571474G>C | NCBI36 |
| NG_013370.1:g.12187C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.298C>G | ENSP00000506849.1:p.Leu100Val | |
| ENST00000392386.8:c.298C>G MANE Select | ENSP00000376188.2:p.Leu100Val | |
| ENST00000392386.7:c.298C>G | ENSP00000376188.2:p.Leu100Val | |
| NM_004750.4:c.298C>G | NP_004741.1:p.Leu100Val | |
| XM_011528422.1:c.232C>G | XP_011526724.1:p.Leu78Val | |
| XM_011528423.1:c.298C>G | XP_011526725.1:p.Leu100Val | |
| XM_011528424.1:c.232C>G | XP_011526726.1:p.Leu78Val | |
| XM_011528422.2:c.232C>G | XP_011526724.1:p.Leu78Val | |
| XM_011528423.2:c.298C>G | XP_011526725.1:p.Leu100Val | |
| XM_011528424.3:c.232C>G | XP_011526726.1:p.Leu78Val | |
| NM_004750.5:c.298C>G MANE Select | NP_004741.1:p.Leu100Val |