Linked Data
dbSNP Id:
rs1222582251
gnomAD v2:
8-143312753-G-T
gnomAD v3:
8-142231392-G-T
gnomAD v4:
8-142231392-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142231392G>T , CM000670.2:g.142231392G>T | GRCh38 |
| NC_000008.10:g.143312753G>T , CM000670.1:g.143312753G>T | GRCh37 |
| NC_000008.9:g.143310660G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524325.6:c.1447-1813C>A MANE Select | ENSP00000428763.2:n.1447-1813C>A | |
| ENST00000307180.4:c.1450-1813C>A | ENSP00000303437.4:n.1450-1813C>A | |
| ENST00000520166.5:c.1450-1813C>A | ENSP00000427770.2:n.1450-1813C>A | |
| ENST00000524325.5:c.1447-1813C>A | ENSP00000428763.2:n.1447-1813C>A | |
| NM_145003.4:c.1447-1813C>A | NP_659440.2:n.1447-1813C>A | |
| NM_001363740.2:c.1450-1813C>A | NP_001350669.1:n.1450-1813C>A | |
| NM_001366901.1:c.1444-1813C>A | NP_001353830.1:n.1444-1813C>A | |
| XM_017013176.1:c.1915-1813C>A | XP_016868665.1:n.1915-1813C>A | |
| XR_001746132.1:n.437-5C>A | ||
| NM_145003.5:c.1447-1813C>A MANE Select | NP_659440.2:n.1447-1813C>A |