Linked Data
dbSNP Id:
rs1030801784
gnomAD v2:
9-132581281-C-T
gnomAD v3:
9-129819002-C-T
gnomAD v4:
9-129819002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129819002C>T , CM000671.2:g.129819002C>T | GRCh38 |
| NC_000009.11:g.132581281C>T , CM000671.1:g.132581281C>T | GRCh37 |
| NC_000009.10:g.131621102C>T | NCBI36 |
| NG_008049.1:g.10161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.445-82G>A MANE Select | ENSP00000345719.4:n.445-82G>A | |
| ENST00000651202.1:c.541-82G>A | ENSP00000498222.1:n.541-82G>A | |
| ENST00000351698.4:c.445-82G>A | ENSP00000345719.4:n.445-82G>A | |
| ENST00000473604.2:n.555-82G>A | ||
| NM_000113.2:c.445-82G>A | NP_000104.1:n.445-82G>A | |
| XR_929731.1:n.605-82G>A | ||
| XR_929731.3:n.473-82G>A | ||
| NM_000113.3:c.445-82G>A MANE Select | NP_000104.1:n.445-82G>A |