Linked Data
dbSNP Id:
rs2056417
gnomAD v2:
1-10581658-G-A
gnomAD v3:
1-10521601-G-A
gnomAD v4:
1-10521601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10521601G>A , CM000663.2:g.10521601G>A | GRCh38 |
| NC_000001.10:g.10581658G>A , CM000663.1:g.10581658G>A | GRCh37 |
| NC_000001.9:g.10504245G>A | NCBI36 |
| NG_008340.1:g.51656G>A | |
| NG_008340.2:g.51656G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356607.9:c.85-14612G>A MANE Select | ENSP00000349016.4:n.85-14612G>A | |
| ENST00000356607.8:c.85-14612G>A | ENSP00000349016.4:n.85-14612G>A | |
| ENST00000472851.1:n.445+4470G>A | ||
| ENST00000491661.2:c.70-14612G>A | ENSP00000465473.1:n.70-14612G>A | |
| NM_004565.2:c.85-14612G>A | NP_004556.1:n.85-14612G>A | |
| XM_011541577.1:c.127-14612G>A | XP_011539879.1:n.127-14612G>A | |
| XM_011541578.1:c.-58G>A | XP_011539880.1:n.-58G>A | |
| XM_011541579.1:c.127-14612G>A | XP_011539881.1:n.127-14612G>A | |
| XM_011541580.1:c.85-14612G>A | XP_011539882.1:n.85-14612G>A | |
| XM_005263470.5:c.-2995G>A | XP_005263527.1:n.-2995G>A | |
| XM_011541577.2:c.127-14612G>A | XP_011539879.1:n.127-14612G>A | |
| XM_011541578.2:c.-58G>A | XP_011539880.1:n.-58G>A | |
| XM_011541579.3:c.127-14612G>A | XP_011539881.1:n.127-14612G>A | |
| XM_024447651.1:c.-108-14612G>A | XP_024303419.1:n.-108-14612G>A | |
| NM_004565.3:c.85-14612G>A MANE Select | NP_004556.1:n.85-14612G>A |