Linked Data
dbSNP Id:
rs374327168
ExAC:
17:39780377 G / C
gnomAD v2:
17-39780377-G-C
gnomAD v4:
17-41624125-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624125G>C , CM000679.2:g.41624125G>C | GRCh38 |
| NC_000017.10:g.39780377G>C , CM000679.1:g.39780377G>C | GRCh37 |
| NC_000017.9:g.37033903G>C | NCBI36 |
| NG_008625.1:g.5506C>G | |
| NG_009090.2:g.167588C>G , LRG_401:g.167588C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.385C>G MANE Select | ENSP00000308452.8:p.Arg129Gly | |
| ENST00000311208.12:c.385C>G | ENSP00000308452.8:p.Arg129Gly | |
| ENST00000463128.5:c.-231C>G | ENSP00000468672.1:n.-231C>G | |
| ENST00000491673.1:n.451C>G | ||
| ENST00000493253.5:n.172C>G | ||
| ENST00000540235.5:c.136C>G | ENSP00000441751.2:p.Arg46Gly | |
| ENST00000577817.3:c.340C>G | ENSP00000467418.1:p.Arg114Gly | |
| NM_000422.2:c.385C>G | NP_000413.1:p.Arg129Gly | |
| NM_000422.3:c.385C>G MANE Select | NP_000413.1:p.Arg129Gly |