Linked Data
dbSNP Id:
rs775982942
ExAC:
1:202566111 G / A
gnomAD v2:
1-202566111-G-A
gnomAD v4:
1-202596983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596983G>A , CM000663.2:g.202596983G>A | GRCh38 |
| NC_000001.10:g.202566111G>A , CM000663.1:g.202566111G>A | GRCh37 |
| NC_000001.9:g.200832734G>A | NCBI36 |
| NG_041776.1:g.118441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1054-20C>T MANE Select | ENSP00000356237.4:n.1054-20C>T | |
| ENST00000367267.5:c.1054-20C>T | ENSP00000356236.1:n.1054-20C>T | |
| ENST00000367268.4:c.1054-20C>T | ENSP00000356237.4:n.1054-20C>T | |
| NM_001136504.1:c.1054-20C>T | NP_001129976.1:n.1054-20C>T | |
| NM_177402.4:c.1054-20C>T | NP_796376.2:n.1054-20C>T | |
| XM_011509192.1:c.1063-20C>T | XP_011507494.1:n.1063-20C>T | |
| XR_922430.1:n.7G>A | ||
| XM_011509192.2:c.1063-20C>T | XP_011507494.1:n.1063-20C>T | |
| XM_017000309.2:c.1234-20C>T | XP_016855798.1:n.1234-20C>T | |
| XM_017000310.2:c.1225-20C>T | XP_016855799.1:n.1225-20C>T | |
| XM_017000311.2:c.1063-20C>T | XP_016855800.1:n.1063-20C>T | |
| XM_017000312.1:c.1063-20C>T | XP_016855801.1:n.1063-20C>T | |
| XM_017000313.1:c.1054-20C>T | XP_016855802.1:n.1054-20C>T | |
| NM_177402.5:c.1054-20C>T MANE Select | NP_796376.2:n.1054-20C>T |