Linked Data
dbSNP Id:
rs748848000
ExAC:
17:39768881 G / C
gnomAD v2:
17-39768881-G-C
gnomAD v3:
17-41612629-G-C
gnomAD v4:
17-41612629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612629G>C , CM000679.2:g.41612629G>C | GRCh38 |
| NC_000017.10:g.39768881G>C , CM000679.1:g.39768881G>C | GRCh37 |
| NC_000017.9:g.37022407G>C | NCBI36 |
| NG_008301.1:g.5199C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.60C>G MANE Select | ENSP00000301653.3:p.Ile20Met | |
| ENST00000301653.8:c.60C>G | ENSP00000301653.3:p.Ile20Met | |
| ENST00000588319.1:n.137C>G | ||
| ENST00000590990.1:c.60C>G | ENSP00000467105.1:p.Ile20Met | |
| ENST00000593067.1:c.-313+161C>G | ENSP00000467124.1:n.-313+161C>G | |
| NM_005557.3:c.60C>G | NP_005548.2:p.Ile20Met | |
| NM_005557.4:c.60C>G MANE Select | NP_005548.2:p.Ile20Met |