Linked Data
dbSNP Id:
rs754908705
ExAC:
17:39780388 G / A
gnomAD v2:
17-39780388-G-A
gnomAD v3:
17-41624136-G-A
gnomAD v4:
17-41624136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624136G>A , CM000679.2:g.41624136G>A | GRCh38 |
| NC_000017.10:g.39780388G>A , CM000679.1:g.39780388G>A | GRCh37 |
| NC_000017.9:g.37033914G>A | NCBI36 |
| NG_008625.1:g.5495C>T | |
| NG_009090.2:g.167577C>T , LRG_401:g.167577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.374C>T MANE Select | ENSP00000308452.8:p.Pro125Leu | |
| ENST00000311208.12:c.374C>T | ENSP00000308452.8:p.Pro125Leu | |
| ENST00000463128.5:c.-242C>T | ENSP00000468672.1:n.-242C>T | |
| ENST00000491673.1:n.440C>T | ||
| ENST00000493253.5:n.161C>T | ||
| ENST00000540235.5:c.125C>T | ENSP00000441751.2:p.Pro42Leu | |
| ENST00000577817.3:c.329C>T | ENSP00000467418.1:p.Pro110Leu | |
| NM_000422.2:c.374C>T | NP_000413.1:p.Pro125Leu | |
| NM_000422.3:c.374C>T MANE Select | NP_000413.1:p.Pro125Leu |