Linked Data
dbSNP Id:
rs888054167
gnomAD v2:
9-27173077-A-T
gnomAD v3:
9-27173079-A-T
gnomAD v4:
9-27173079-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27173079A>T , CM000671.2:g.27173079A>T | GRCh38 |
| NC_000009.11:g.27173077A>T , CM000671.1:g.27173077A>T | GRCh37 |
| NC_000009.10:g.27163077A>T | NCBI36 |
| NG_011828.1:g.68931A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.761-143A>T MANE Select | ENSP00000369375.4:n.761-143A>T | |
| ENST00000380036.8:c.761-143A>T | ENSP00000369375.4:n.761-143A>T | |
| ENST00000406359.8:c.761-143A>T | ENSP00000383977.4:n.761-143A>T | |
| ENST00000519080.1:c.320-143A>T | ENSP00000428337.1:n.320-143A>T | |
| ENST00000519097.5:c.449-143A>T | ENSP00000430686.1:n.449-143A>T | |
| ENST00000615002.4:c.761-143A>T | ENSP00000480251.1:n.761-143A>T | |
| NM_000459.4:c.761-143A>T | NP_000450.2:n.761-143A>T | |
| NM_001290077.1:c.761-143A>T | NP_001277006.1:n.761-143A>T | |
| NM_001290078.1:c.449-143A>T | NP_001277007.1:n.449-143A>T | |
| XM_005251561.1:c.761-143A>T | XP_005251618.1:n.761-143A>T | |
| XM_005251563.1:c.761-143A>T | XP_005251620.1:n.761-143A>T | |
| XM_005251561.2:c.761-143A>T | XP_005251618.1:n.761-143A>T | |
| XM_005251563.2:c.761-143A>T | XP_005251620.1:n.761-143A>T | |
| NM_000459.5:c.761-143A>T MANE Select | NP_000450.3:n.761-143A>T | |
| NM_001375475.1:c.761-143A>T | NP_001362404.1:n.761-143A>T | |
| NM_001375476.1:c.761-143A>T | NP_001362405.1:n.761-143A>T |