Linked Data
dbSNP Id:
rs6258
ExAC:
17:7534678 C / A
gnomAD v2:
17-7534678-C-A
gnomAD v3:
17-7631360-C-A
gnomAD v4:
17-7631360-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7631360C>A , CM000679.2:g.7631360C>A | GRCh38 |
| NC_000017.10:g.7534678C>A , CM000679.1:g.7534678C>A | GRCh37 |
| NC_000017.9:g.7475403C>A | NCBI36 |
| NG_011981.2:g.22297C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380450.9:c.554C>A MANE Select | ENSP00000369816.4:p.Pro185Gln | |
| ENST00000340624.9:c.380C>A | ENSP00000345675.6:p.Pro127Gln | |
| ENST00000380450.8:c.554C>A | ENSP00000369816.4:p.Pro185Gln | |
| ENST00000416273.7:c.554C>A | ENSP00000388867.3:p.Pro185Gln | |
| ENST00000441599.6:c.554C>A | ENSP00000393426.2:p.Pro185Gln | |
| ENST00000570353.5:c.462C>A | ENSP00000458199.1:p.Ala154= | |
| ENST00000570527.5:c.*512C>A | ENSP00000461162.1:n.*512C>A | |
| ENST00000570547.5:c.380C>A | ENSP00000458875.1:p.Pro127Gln | |
| ENST00000571153.5:c.313-229C>A | ENSP00000458858.1:n.313-229C>A | |
| ENST00000572182.5:c.219+491C>A | ENSP00000458816.1:n.219+491C>A | |
| ENST00000572262.5:c.220-229C>A | ENSP00000459999.1:n.220-229C>A | |
| ENST00000574539.5:c.380C>A | ENSP00000458181.1:p.Pro127Gln | |
| ENST00000575314.5:c.380C>A | ENSP00000458559.1:p.Pro127Gln | |
| ENST00000575618.5:c.312+491C>A | ENSP00000459826.1:n.312+491C>A | |
| ENST00000575903.5:c.554C>A | ENSP00000458973.1:p.Pro185Gln | |
| ENST00000576152.1:c.313-229C>A | ENSP00000461743.1:n.313-229C>A | |
| ENST00000576478.5:c.220-229C>A | ENSP00000461133.1:n.220-229C>A | |
| ENST00000576728.5:c.220-229C>A | ENSP00000459620.1:n.220-229C>A | |
| ENST00000576747.1:n.52C>A | ||
| ENST00000576830.5:c.473C>A | ENSP00000460219.1:p.Pro158Gln | |
| NM_001040.4:c.554C>A | NP_001031.2:p.Pro185Gln | |
| NM_001146279.2:c.554C>A | NP_001139751.1:p.Pro185Gln | |
| NM_001146280.2:c.554C>A | NP_001139752.1:p.Pro185Gln | |
| NM_001146281.2:c.554C>A | NP_001139753.1:p.Pro185Gln | |
| NM_001289113.1:c.380C>A | NP_001276042.1:p.Pro127Gln | |
| NM_001289114.1:c.380C>A | NP_001276043.1:p.Pro127Gln | |
| NM_001289115.1:c.380C>A | NP_001276044.1:p.Pro127Gln | |
| NM_001289116.1:c.206C>A | NP_001276045.1:p.Pro69Gln | |
| XM_011523991.1:c.554C>A | XP_011522293.1:p.Pro185Gln | |
| NM_001040.5:c.554C>A MANE Select | NP_001031.2:p.Pro185Gln | |
| NM_001146279.3:c.554C>A | NP_001139751.1:p.Pro185Gln | |
| NM_001146280.3:c.554C>A | NP_001139752.1:p.Pro185Gln | |
| NM_001289116.2:c.206C>A | NP_001276045.1:p.Pro69Gln | |
| NM_001146281.3:c.554C>A | NP_001139753.1:p.Pro185Gln | |
| NM_001289113.2:c.380C>A | NP_001276042.1:p.Pro127Gln | |
| NM_001289114.2:c.380C>A | NP_001276043.1:p.Pro127Gln | |
| NM_001289115.2:c.380C>A | NP_001276044.1:p.Pro127Gln |