Linked Data
dbSNP Id:
rs149956316
gnomAD v2:
X-109949512-G-A
gnomAD v3:
X-110706284-G-A
gnomAD v4:
X-110706284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110706284G>A , CM000685.2:g.110706284G>A | GRCh38 |
| NC_000023.10:g.109949512G>A , CM000685.1:g.109949512G>A | GRCh37 |
| NC_000023.9:g.109836168G>A | NCBI36 |
| NG_012816.1:g.94775C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372042.6:c.542-5563C>T MANE Select | ENSP00000361112.1:n.542-5563C>T | |
| ENST00000372042.5:c.542-5563C>T | ENSP00000361112.1:n.542-5563C>T | |
| ENST00000372045.5:c.521-5563C>T | ENSP00000361115.1:n.521-5563C>T | |
| ENST00000394797.8:c.539-5563C>T | ENSP00000378276.4:n.539-5563C>T | |
| ENST00000444321.2:c.539-5563C>T | ENSP00000399739.2:n.539-5563C>T | |
| ENST00000482160.5:c.302-5563C>T | ENSP00000418443.1:n.302-5563C>T | |
| NM_001143981.1:c.542-5563C>T | NP_001137453.1:n.542-5563C>T | |
| NM_001143982.1:c.539-5563C>T | NP_001137454.1:n.539-5563C>T | |
| NM_001143983.2:c.302-5563C>T | NP_001137455.2:n.302-5563C>T | |
| NM_145234.3:c.539-5563C>T | NP_660277.2:n.539-5563C>T | |
| XM_005262221.1:c.542-5563C>T | XP_005262278.1:n.542-5563C>T | |
| XM_005262222.3:c.539-5563C>T | XP_005262279.1:n.539-5563C>T | |
| XM_005262223.1:c.542-5563C>T | XP_005262280.1:n.542-5563C>T | |
| XM_005262224.1:c.539-5563C>T | XP_005262281.1:n.539-5563C>T | |
| XM_017029959.1:c.542-5563C>T | XP_016885448.1:n.542-5563C>T | |
| NM_001367204.1:c.542-5563C>T | NP_001354133.1:n.542-5563C>T | |
| NM_001367205.1:c.542-5563C>T | NP_001354134.1:n.542-5563C>T | |
| NM_001367206.1:c.542-5563C>T | NP_001354135.1:n.542-5563C>T | |
| NM_001367207.1:c.539-5563C>T | NP_001354136.1:n.539-5563C>T | |
| NM_001367208.1:c.542-5563C>T | NP_001354137.1:n.542-5563C>T | |
| NM_001367209.1:c.542-5563C>T | NP_001354138.1:n.542-5563C>T | |
| NR_159734.1:n.650-2968C>T | ||
| NM_001143981.2:c.542-5563C>T MANE Select | NP_001137453.1:n.542-5563C>T | |
| NM_001143982.2:c.539-5563C>T | NP_001137454.1:n.539-5563C>T | |
| NM_001143983.3:c.302-5563C>T | NP_001137455.2:n.302-5563C>T | |
| NM_145234.4:c.539-5563C>T | NP_660277.2:n.539-5563C>T |