Linked Data
dbSNP Id:
rs1326643530
gnomAD v2:
2-219447664-A-T
gnomAD v3:
2-218582941-A-T
gnomAD v4:
2-218582941-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218582941A>T , CM000664.2:g.218582941A>T | GRCh38 |
| NC_000002.11:g.219447664A>T , CM000664.1:g.219447664A>T | GRCh37 |
| NC_000002.10:g.219155908A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273064.11:c.205-30A>T MANE Select | ENSP00000273064.6:n.205-30A>T | |
| ENST00000273064.10:c.205-30A>T | ENSP00000273064.6:n.205-30A>T | |
| ENST00000295701.9:c.205-30A>T | ENSP00000295701.5:n.205-30A>T | |
| ENST00000432877.5:c.*97-30A>T | ENSP00000392394.1:n.*97-30A>T | |
| ENST00000542068.5:c.205-30A>T | ENSP00000443687.1:n.205-30A>T | |
| ENST00000627282.2:c.205-30A>T | ENSP00000486540.1:n.205-30A>T | |
| NM_001271634.1:c.205-30A>T | NP_001258563.1:n.205-30A>T | |
| NM_001271635.1:c.205-30A>T | NP_001258564.1:n.205-30A>T | |
| NM_005444.2:c.205-30A>T | NP_005435.1:n.205-30A>T | |
| NR_073390.1:n.580-30A>T | ||
| XM_011512138.1:c.46-30A>T | XP_011510440.1:n.46-30A>T | |
| XM_011512138.3:c.46-30A>T | XP_011510440.1:n.46-30A>T | |
| XM_017005248.1:c.43-30A>T | XP_016860737.1:n.43-30A>T | |
| XM_017005249.2:c.46-30A>T | XP_016860738.1:n.46-30A>T | |
| NM_001271634.2:c.205-30A>T | NP_001258563.1:n.205-30A>T | |
| NM_005444.3:c.205-30A>T MANE Select | NP_005435.1:n.205-30A>T | |
| NR_073390.2:n.321-30A>T | ||
| NM_001271635.2:c.205-30A>T | NP_001258564.1:n.205-30A>T |