Linked Data
dbSNP Id:
rs1165215
gnomAD v2:
6-25798932-G-A
gnomAD v3:
6-25798704-G-A
gnomAD v4:
6-25798704-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25798704G>A , CM000668.2:g.25798704G>A | GRCh38 |
| NC_000006.11:g.25798932G>A , CM000668.1:g.25798932G>A | GRCh37 |
| NC_000006.10:g.25906911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244527.10:c.*2+79C>T MANE Select | ENSP00000244527.4:n.*2+79C>T | |
| ENST00000244527.8:c.*2+79C>T | ENSP00000244527.4:n.*2+79C>T | |
| ENST00000377886.6:c.*657+79C>T | ENSP00000367118.2:n.*657+79C>T | |
| ENST00000476801.5:c.*81C>T | ENSP00000420614.1:n.*81C>T | |
| NM_005074.3:c.*2+79C>T | NP_005065.2:n.*2+79C>T | |
| XM_011514818.1:c.1178+12694C>T | XP_011513120.1:n.1178+12694C>T | |
| XM_011514819.1:c.*81C>T | XP_011513121.1:n.*81C>T | |
| XM_011514820.1:c.*81C>T | XP_011513122.1:n.*81C>T | |
| XM_011514821.1:c.*81C>T | XP_011513123.1:n.*81C>T | |
| XM_011514818.2:c.1328+12694C>T | XP_011513120.2:n.1328+12694C>T | |
| XM_011514819.2:c.*81C>T | XP_011513121.2:n.*81C>T | |
| XM_011514820.2:c.*81C>T | XP_011513122.2:n.*81C>T | |
| XM_011514821.2:c.*81C>T | XP_011513123.1:n.*81C>T | |
| XM_017011199.1:c.*81C>T | XP_016866688.1:n.*81C>T | |
| XM_017011200.1:c.*2+79C>T | XP_016866689.1:n.*2+79C>T | |
| XM_017011201.2:c.*2+79C>T | XP_016866690.1:n.*2+79C>T | |
| XM_017011202.1:c.*81C>T | XP_016866691.1:n.*81C>T | |
| NM_005074.5:c.*2+79C>T MANE Select | NP_005065.2:n.*2+79C>T |