Linked Data
dbSNP Id:
rs2053724
ExAC:
2:116510817 G / C
gnomAD v2:
2-116510817-G-C
gnomAD v3:
2-115753241-G-C
gnomAD v4:
2-115753241-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.115753241G>C , CM000664.2:g.115753241G>C | GRCh38 |
| NC_000002.11:g.116510817G>C , CM000664.1:g.116510817G>C | GRCh37 |
| NC_000002.10:g.116227287G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000410059.6:c.1018G>C MANE Select | ENSP00000386565.1:p.Ala340Pro | |
| ENST00000310323.12:c.997G>C | ENSP00000309066.8:p.Ala333Pro | |
| ENST00000393147.6:c.1030G>C | ENSP00000376855.2:p.Ala344Pro | |
| ENST00000409163.5:c.868G>C | ENSP00000387038.1:p.Ala290Pro | |
| ENST00000410059.5:c.1018G>C | ENSP00000386565.1:p.Ala340Pro | |
| NM_001004360.3:c.997G>C | NP_001004360.2:p.Ala333Pro | |
| NM_001178034.1:c.1030G>C | NP_001171505.1:p.Ala344Pro | |
| NM_001178036.1:c.868G>C | NP_001171507.1:p.Ala290Pro | |
| NM_001178037.1:c.1006G>C | NP_001171508.1:p.Ala336Pro | |
| NM_020868.3:c.1018G>C | NP_065919.2:p.Ala340Pro | |
| XM_011511526.1:c.997G>C | XP_011509828.1:p.Ala333Pro | |
| XM_011511527.1:c.868G>C | XP_011509829.1:p.Ala290Pro | |
| XM_011511528.1:c.766G>C | XP_011509830.1:p.Ala256Pro | |
| XR_923234.1:n.67+1494C>G | ||
| NM_001321905.1:c.1069G>C | NP_001308834.1:p.Ala357Pro | |
| NM_001321906.1:c.997G>C | NP_001308835.1:p.Ala333Pro | |
| NM_001321907.1:c.1018G>C | NP_001308836.1:p.Ala340Pro | |
| NM_001321908.1:c.928G>C | NP_001308837.1:p.Ala310Pro | |
| NM_001321909.1:c.901G>C | NP_001308838.1:p.Ala301Pro | |
| NM_001321910.1:c.868G>C | NP_001308839.1:p.Ala290Pro | |
| NM_001321911.1:c.868G>C | NP_001308840.1:p.Ala290Pro | |
| NM_001321912.1:c.868G>C | NP_001308841.1:p.Ala290Pro | |
| NM_001321913.1:c.256G>C | NP_001308842.1:p.Ala86Pro | |
| NM_001321914.1:c.256G>C | NP_001308843.1:p.Ala86Pro | |
| NM_020868.4:c.1018G>C | NP_065919.2:p.Ala340Pro | |
| XM_017004566.1:c.895G>C | XP_016860055.1:p.Ala299Pro | |
| XM_024453023.1:c.997G>C | XP_024308791.1:p.Ala333Pro | |
| XR_923234.2:n.67+1494C>G | ||
| NM_001004360.4:c.997G>C | NP_001004360.3:p.Ala333Pro | |
| NM_001178036.2:c.868G>C | NP_001171507.2:p.Ala290Pro | |
| NM_001178037.2:c.1006G>C | NP_001171508.2:p.Ala336Pro | |
| NM_001321905.2:c.1069G>C | NP_001308834.2:p.Ala357Pro | |
| NM_001321907.2:c.1018G>C | NP_001308836.2:p.Ala340Pro | |
| NM_001321908.2:c.928G>C | NP_001308837.2:p.Ala310Pro | |
| NM_001321909.2:c.901G>C | NP_001308838.2:p.Ala301Pro | |
| NM_001321910.2:c.868G>C | NP_001308839.2:p.Ala290Pro | |
| NM_001321911.2:c.868G>C | NP_001308840.2:p.Ala290Pro | |
| NM_001321912.2:c.868G>C | NP_001308841.2:p.Ala290Pro | |
| NM_001321913.2:c.256G>C | NP_001308842.2:p.Ala86Pro | |
| NM_020868.6:c.1018G>C MANE Select | NP_065919.3:p.Ala340Pro | |
| NM_001004360.5:c.997G>C | NP_001004360.3:p.Ala333Pro | |
| NM_001178036.3:c.868G>C | NP_001171507.2:p.Ala290Pro | |
| NM_001178037.3:c.1006G>C | NP_001171508.2:p.Ala336Pro | |
| NM_001321905.3:c.1069G>C | NP_001308834.2:p.Ala357Pro | |
| NM_001321906.2:c.997G>C | NP_001308835.2:p.Ala333Pro | |
| NM_001321907.3:c.1018G>C | NP_001308836.2:p.Ala340Pro | |
| NM_001321908.3:c.928G>C | NP_001308837.2:p.Ala310Pro | |
| NM_001321909.3:c.901G>C | NP_001308838.2:p.Ala301Pro | |
| NM_001321910.3:c.868G>C | NP_001308839.2:p.Ala290Pro | |
| NM_001321911.3:c.868G>C | NP_001308840.2:p.Ala290Pro | |
| NM_001321912.3:c.868G>C | NP_001308841.2:p.Ala290Pro | |
| NM_001321913.3:c.256G>C | NP_001308842.2:p.Ala86Pro | |
| NM_001321914.2:c.256G>C | NP_001308843.2:p.Ala86Pro | |
| NM_001399849.1:c.868G>C | NP_001386778.1:p.Ala290Pro | |
| NM_001399850.1:c.256G>C | NP_001386779.1:p.Ala86Pro | |
| NM_001399851.1:c.766G>C | NP_001386780.1:p.Ala256Pro |