Linked Data
dbSNP Id:
rs11601602
gnomAD v2:
11-28233768-A-G
gnomAD v3:
11-28212221-A-G
gnomAD v4:
11-28212221-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.28212221A>G , CM000673.2:g.28212221A>G | GRCh38 |
| NC_000011.9:g.28233768A>G , CM000673.1:g.28233768A>G | GRCh37 |
| NC_000011.8:g.28190344A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407364.8:c.407+1023A>G MANE Select | ENSP00000384369.3:n.407+1023A>G | |
| ENST00000303459.10:c.407+1023A>G | ENSP00000307251.6:n.407+1023A>G | |
| ENST00000406787.7:c.407+1023A>G | ENSP00000385507.3:n.407+1023A>G | |
| ENST00000407364.7:c.407+1023A>G | ENSP00000384369.3:n.407+1023A>G | |
| ENST00000451385.6:c.*21+1023A>G | ENSP00000396550.1:n.*21+1023A>G | |
| ENST00000532947.2:c.271-77985A>G | ENSP00000489497.1:n.271-77985A>G | |
| ENST00000634627.1:c.407+1023A>G | ENSP00000489381.1:n.407+1023A>G | |
| ENST00000634973.1:c.407+1023A>G | ENSP00000489505.1:n.407+1023A>G | |
| NM_001113528.1:c.407+1023A>G | NP_001107000.1:n.407+1023A>G | |
| NM_001297775.1:c.407+1023A>G | NP_001284704.1:n.407+1023A>G | |
| NM_152636.2:c.407+1023A>G | NP_689849.2:n.407+1023A>G | |
| XM_011519935.1:c.212+1023A>G | XP_011518237.1:n.212+1023A>G | |
| XM_011519936.1:c.212+1023A>G | XP_011518238.1:n.212+1023A>G | |
| XM_011519937.1:c.212+1023A>G | XP_011518239.1:n.212+1023A>G | |
| XM_011519938.1:c.-238+1023A>G | XP_011518240.1:n.-238+1023A>G | |
| XM_011519939.1:c.-78+1023A>G | XP_011518241.1:n.-78+1023A>G | |
| XM_011519940.1:c.407+1023A>G | XP_011518242.1:n.407+1023A>G | |
| XM_011519941.1:c.407+1023A>G | XP_011518243.1:n.407+1023A>G | |
| XR_930849.1:n.862+1023A>G | ||
| XR_930850.1:n.862+1023A>G | ||
| XM_011519935.3:c.212+1023A>G | XP_011518237.1:n.212+1023A>G | |
| XM_011519940.3:c.407+1023A>G | XP_011518242.1:n.407+1023A>G | |
| XM_011519941.2:c.407+1023A>G | XP_011518243.1:n.407+1023A>G | |
| XM_017017297.2:c.407+1023A>G | XP_016872786.1:n.407+1023A>G | |
| XM_017017300.2:c.125+1023A>G | XP_016872789.1:n.125+1023A>G | |
| XM_017017301.2:c.407+1023A>G | XP_016872790.1:n.407+1023A>G | |
| XM_017017303.2:c.-78+1023A>G | XP_016872792.1:n.-78+1023A>G | |
| XM_024448380.1:c.212+1023A>G | XP_024304148.1:n.212+1023A>G | |
| XM_024448381.1:c.212+1023A>G | XP_024304149.1:n.212+1023A>G | |
| XM_024448382.1:c.-238+1023A>G | XP_024304150.1:n.-238+1023A>G | |
| XR_001747787.1:n.534+1023A>G | ||
| XR_930849.2:n.764+1023A>G | ||
| NM_001113528.2:c.407+1023A>G MANE Select | NP_001107000.1:n.407+1023A>G | |
| NM_001297775.2:c.407+1023A>G | NP_001284704.1:n.407+1023A>G | |
| NM_152636.3:c.407+1023A>G | NP_689849.2:n.407+1023A>G |