Linked Data
dbSNP Id:
rs1377721264
gnomAD v2:
X-63004950-G-A
gnomAD v3:
X-63785070-G-A
gnomAD v4:
X-63785070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785070G>A , CM000685.2:g.63785070G>A | GRCh38 |
| NC_000023.10:g.63004950G>A , CM000685.1:g.63004950G>A | GRCh37 |
| NC_000023.9:g.62921675G>A | NCBI36 |
| NG_016975.1:g.5477C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000671741.2:c.30+46C>T MANE Select | ENSP00000500715.1:n.30+46C>T | |
| ENST00000672467.1:n.99+46C>T | ||
| ENST00000374878.5:c.30+46C>T | ENSP00000364012.2:n.30+46C>T | |
| ENST00000437457.6:c.30+46C>T | ENSP00000399994.3:n.30+46C>T | |
| ENST00000623417.3:c.-118+10446C>T | ENSP00000485083.1:n.-118+10446C>T | |
| ENST00000623517.3:c.30+46C>T | ENSP00000485369.1:n.30+46C>T | |
| ENST00000624355.1:c.-132+46C>T | ENSP00000485327.1:n.-132+46C>T | |
| ENST00000625116.3:c.-195+46C>T | ENSP00000485160.1:n.-195+46C>T | |
| NM_001173479.1:c.30+46C>T | NP_001166950.1:n.30+46C>T | |
| XM_005262249.1:c.30+46C>T | XP_005262306.1:n.30+46C>T | |
| XM_005262252.1:c.-132+46C>T | XP_005262309.1:n.-132+46C>T | |
| NM_001330495.1:c.-132+46C>T | NP_001317424.1:n.-132+46C>T | |
| NM_001353921.1:c.30+46C>T | NP_001340850.1:n.30+46C>T | |
| NM_001353922.1:c.30+46C>T | NP_001340851.1:n.30+46C>T | |
| XM_017029378.2:c.30+46C>T | XP_016884867.1:n.30+46C>T | |
| XM_024452358.1:c.-132+46C>T | XP_024308126.1:n.-132+46C>T | |
| NM_001173479.2:c.30+46C>T | NP_001166950.1:n.30+46C>T | |
| NM_001330495.2:c.-132+46C>T | NP_001317424.1:n.-132+46C>T | |
| NM_001353921.2:c.30+46C>T MANE Select | NP_001340850.1:n.30+46C>T | |
| NM_001353922.2:c.30+46C>T | NP_001340851.1:n.30+46C>T | |
| NM_001369043.1:c.-132+46C>T | NP_001355972.1:n.-132+46C>T |