Linked Data
dbSNP Id:
rs570912877
ExAC:
19:10741953 C / G
gnomAD v2:
19-10741953-C-G
gnomAD v3:
19-10631277-C-G
gnomAD v4:
19-10631277-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10631277C>G , CM000681.2:g.10631277C>G | GRCh38 |
| NC_000019.9:g.10741953C>G , CM000681.1:g.10741953C>G | GRCh37 |
| NC_000019.8:g.10602953C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335757.10:c.333C>G MANE Select | ENSP00000336888.4:p.Ile111Met | |
| ENST00000335757.9:c.333C>G | ENSP00000336888.4:p.Ile111Met | |
| ENST00000407327.8:c.327C>G | ENSP00000385135.3:p.Ile109Met | |
| ENST00000586078.5:c.333C>G | ENSP00000466664.1:p.Ile111Met | |
| ENST00000588409.1:c.245+3273C>G | ENSP00000468070.1:n.245+3273C>G | |
| ENST00000588465.5:n.242C>G | ||
| ENST00000588688.5:c.174C>G | ENSP00000467552.1:p.Ile58Met | |
| ENST00000590382.5:c.168C>G | ENSP00000468691.1:p.Ile56Met | |
| ENST00000590857.5:c.-217C>G | ENSP00000465547.1:n.-217C>G | |
| ENST00000592293.5:c.*130C>G | ENSP00000466612.1:n.*130C>G | |
| NM_001145056.1:c.327C>G | NP_001138528.1:p.Ile109Met | |
| NM_020428.3:c.333C>G | NP_065161.3:p.Ile111Met | |
| XM_005259997.1:c.333C>G | XP_005260054.1:p.Ile111Met | |
| XM_005259999.1:c.327C>G | XP_005260056.1:p.Ile109Met | |
| NM_001363611.1:c.333C>G | NP_001350540.1:p.Ile111Met | |
| XM_005259999.2:c.327C>G | XP_005260056.1:p.Ile109Met | |
| NM_020428.4:c.333C>G MANE Select | NP_065161.3:p.Ile111Met | |
| NM_001145056.2:c.327C>G | NP_001138528.1:p.Ile109Met | |
| NM_001363611.2:c.333C>G | NP_001350540.1:p.Ile111Met |