Linked Data
dbSNP Id:
rs912428
gnomAD v2:
13-47167903-A-G
gnomAD v3:
13-46593768-A-G
gnomAD v4:
13-46593768-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46593768A>G , CM000675.2:g.46593768A>G | GRCh38 |
| NC_000013.10:g.47167903A>G , CM000675.1:g.47167903A>G | GRCh37 |
| NC_000013.9:g.46065904A>G | NCBI36 |
| NG_021335.1:g.45608A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389797.8:c.307+40065A>G MANE Select | ENSP00000374447.3:n.307+40065A>G | |
| ENST00000311191.10:c.307+40065A>G | ENSP00000308493.5:n.307+40065A>G | |
| ENST00000389797.7:c.307+40065A>G | ENSP00000374447.3:n.307+40065A>G | |
| ENST00000389798.7:c.307+40065A>G | ENSP00000374448.3:n.307+40065A>G | |
| ENST00000443945.6:n.534+40065A>G | ||
| NM_001164211.1:c.307+40065A>G | NP_001157683.1:n.307+40065A>G | |
| NM_001164213.1:c.307+40065A>G | NP_001157685.1:n.307+40065A>G | |
| NM_015116.2:c.307+40065A>G | NP_055931.1:n.307+40065A>G | |
| XM_011535013.1:c.307+40065A>G | XP_011533315.1:n.307+40065A>G | |
| XM_017020483.2:c.307+40065A>G | XP_016875972.1:n.307+40065A>G | |
| XM_017020484.1:c.-329+40065A>G | XP_016875973.1:n.-329+40065A>G | |
| XR_001749525.2:n.534+40065A>G | ||
| NM_001164211.2:c.307+40065A>G MANE Select | NP_001157683.2:n.307+40065A>G | |
| NM_001164213.2:c.307+40065A>G | NP_001157685.2:n.307+40065A>G | |
| NM_015116.3:c.307+40065A>G | NP_055931.2:n.307+40065A>G |