Linked Data
dbSNP Id:
rs752893022
ExAC:
9:132581147 A / G
gnomAD v2:
9-132581147-A-G
gnomAD v3:
9-129818868-A-G
gnomAD v4:
9-129818868-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818868A>G , CM000671.2:g.129818868A>G | GRCh38 |
| NC_000009.11:g.132581147A>G , CM000671.1:g.132581147A>G | GRCh37 |
| NC_000009.10:g.131620968A>G | NCBI36 |
| NG_008049.1:g.10295T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.497T>C MANE Select | ENSP00000345719.4:p.Ile166Thr | |
| ENST00000651202.1:c.593T>C | ENSP00000498222.1:p.Ile198Thr | |
| ENST00000351698.4:c.497T>C | ENSP00000345719.4:p.Ile166Thr | |
| ENST00000473604.2:n.607T>C | ||
| NM_000113.2:c.497T>C | NP_000104.1:p.Ile166Thr | |
| XR_929731.1:n.657T>C | ||
| XR_929731.3:n.525T>C | ||
| NM_000113.3:c.497T>C MANE Select | NP_000104.1:p.Ile166Thr |