Linked Data
dbSNP Id:
rs746277264
ExAC:
17:39780723 G / A
gnomAD v2:
17-39780723-G-A
gnomAD v4:
17-41624471-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624471G>A , CM000679.2:g.41624471G>A | GRCh38 |
| NC_000017.10:g.39780723G>A , CM000679.1:g.39780723G>A | GRCh37 |
| NC_000017.9:g.37034249G>A | NCBI36 |
| NG_008625.1:g.5160C>T | |
| NG_009090.2:g.167242C>T , LRG_401:g.167242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.39C>T MANE Select | ENSP00000308452.8:p.Ser13= | |
| ENST00000311208.12:c.39C>T | ENSP00000308452.8:p.Ser13= | |
| ENST00000463128.5:c.-312-265C>T | ENSP00000468672.1:n.-312-265C>T | |
| ENST00000491673.1:n.105C>T | ||
| ENST00000540235.5:c.-167C>T | ENSP00000441751.2:n.-167C>T | |
| NM_000422.2:c.39C>T | NP_000413.1:p.Ser13= | |
| NM_000422.3:c.39C>T MANE Select | NP_000413.1:p.Ser13= |