Linked Data
dbSNP Id:
rs4945261
gnomAD v2:
11-77990260-G-A
gnomAD v3:
11-78279214-G-A
gnomAD v4:
11-78279214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78279214G>A , CM000673.2:g.78279214G>A | GRCh38 |
| NC_000011.9:g.77990260G>A , CM000673.1:g.77990260G>A | GRCh37 |
| NC_000011.8:g.77667908G>A | NCBI36 |
| NG_016171.1:g.143609C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361507.5:c.376+1387C>T MANE Select | ENSP00000354952.4:n.376+1387C>T | |
| ENST00000340149.6:c.262+1387C>T | ENSP00000343959.2:n.262+1387C>T | |
| ENST00000361507.4:c.376+1387C>T | ENSP00000354952.4:n.376+1387C>T | |
| ENST00000526030.1:n.555+1387C>T | ||
| ENST00000528886.5:c.262+1387C>T | ENSP00000433762.1:n.262+1387C>T | |
| ENST00000530915.1:c.262+1387C>T | ENSP00000431868.1:n.262+1387C>T | |
| NM_012296.3:c.262+1387C>T | NP_036428.1:n.262+1387C>T | |
| NM_080491.2:c.376+1387C>T | NP_536739.1:n.376+1387C>T | |
| XM_006718753.1:c.262+1387C>T | XP_006718816.1:n.262+1387C>T | |
| XM_011545408.1:c.-41+1387C>T | XP_011543710.1:n.-41+1387C>T | |
| XR_950117.1:n.301+1387C>T | ||
| XM_006718753.2:c.262+1387C>T | XP_006718816.1:n.262+1387C>T | |
| XM_011545408.3:c.-41+1387C>T | XP_011543710.1:n.-41+1387C>T | |
| XM_024448782.1:c.322+1387C>T | XP_024304550.1:n.322+1387C>T | |
| NM_080491.3:c.376+1387C>T MANE Select | NP_536739.1:n.376+1387C>T | |
| NM_012296.4:c.262+1387C>T | NP_036428.1:n.262+1387C>T |