Linked Data
dbSNP Id:
rs373613604
ExAC:
13:23915230 G / T
gnomAD v2:
13-23915230-G-T
gnomAD v4:
13-23341091-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341091G>T , CM000675.2:g.23341091G>T | GRCh38 |
| NC_000013.10:g.23915230G>T , CM000675.1:g.23915230G>T | GRCh37 |
| NC_000013.9:g.22813230G>T | NCBI36 |
| NG_012342.1:g.97612C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+12694C>A | ENSP00000508399.1:n.2185+12694C>A | |
| ENST00000682944.1:c.2812C>A | ENSP00000507173.1:p.Arg938Ser | |
| ENST00000683210.1:c.2185+12694C>A | ENSP00000506739.1:n.2185+12694C>A | |
| ENST00000683270.1:c.2776C>A | ENSP00000507624.1:p.Arg926Ser | |
| ENST00000683367.1:c.2177-11607C>A | ENSP00000507780.1:n.2177-11607C>A | |
| ENST00000683489.1:c.2291+494C>A | ENSP00000508403.1:n.2291+494C>A | |
| ENST00000683680.1:c.2318+494C>A | ENSP00000507223.1:n.2318+494C>A | |
| ENST00000684163.1:c.2203+5720C>A | ENSP00000508262.1:n.2203+5720C>A | |
| ENST00000684196.1:n.4543-11607C>A | ||
| ENST00000684325.1:c.2185+12694C>A | ENSP00000508121.1:n.2185+12694C>A | |
| ENST00000684385.1:c.2220+5720C>A | ENSP00000507855.1:n.2220+5720C>A | |
| ENST00000684497.1:c.2185+12694C>A | ENSP00000507057.1:n.2185+12694C>A | |
| ENST00000382292.9:c.2785C>A MANE Select | ENSP00000371729.3:p.Arg929Ser | |
| ENST00000423156.2:c.2186-11607C>A | ENSP00000390925.2:n.2186-11607C>A | |
| ENST00000455470.6:c.2431+354C>A | ENSP00000406565.2:n.2431+354C>A | |
| ENST00000382292.7:c.2785C>A | ENSP00000371729.3:p.Arg929Ser | |
| ENST00000382298.7:c.2785C>A | ENSP00000371735.3:p.Arg929Ser | |
| ENST00000402364.1:c.535C>A | ENSP00000385844.1:p.Arg179Ser | |
| ENST00000423156.1:c.1058-11607C>A | ENSP00000390925.1:n.1058-11607C>A | |
| ENST00000455470.5:c.2129+354C>A | ||
| NM_001278055.1:c.2344C>A | NP_001264984.1:p.Arg782Ser | |
| NM_014363.5:c.2785C>A | NP_055178.3:p.Arg929Ser | |
| XM_005266338.1:c.2812C>A | XP_005266395.1:p.Arg938Ser | |
| XM_011535038.1:c.2836C>A | XP_011533340.1:p.Arg946Ser | |
| XM_011535039.1:c.2803C>A | XP_011533341.1:p.Arg935Ser | |
| XM_005266338.2:c.2812C>A | XP_005266395.1:p.Arg938Ser | |
| XM_011535039.2:c.2803C>A | XP_011533341.1:p.Arg935Ser | |
| XM_017020539.1:c.2776C>A | XP_016876028.1:p.Arg926Ser | |
| XM_024449337.1:c.2812C>A | XP_024305105.1:p.Arg938Ser | |
| NM_014363.6:c.2785C>A MANE Select | NP_055178.3:p.Arg929Ser | |
| NM_001278055.2:c.2344C>A | NP_001264984.1:p.Arg782Ser |