Linked Data
dbSNP Id:
rs17348572
ExAC:
3:140178381 T / C
gnomAD v2:
3-140178381-T-C
gnomAD v3:
3-140459539-T-C
gnomAD v4:
3-140459539-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140459539T>C , CM000665.2:g.140459539T>C | GRCh38 |
| NC_000003.11:g.140178381T>C , CM000665.1:g.140178381T>C | GRCh37 |
| NC_000003.10:g.141661071T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458420.7:c.992T>C MANE Select | ENSP00000402460.2:p.Ile331Thr | |
| ENST00000511524.1:n.1180T>C | ||
| ENST00000620185.1:c.800T>C | ENSP00000478883.1:p.Ile267Thr | |
| NM_022131.2:c.992T>C | NP_071414.2:p.Ile331Thr | |
| XR_924548.1:n.49-4786A>G | ||
| XR_924549.1:n.49-4786A>G | ||
| XM_017007022.2:c.917T>C | XP_016862511.1:p.Ile306Thr | |
| XR_924548.2:n.1503-4786A>G | ||
| XR_924549.2:n.1503-4786A>G | ||
| NM_022131.3:c.992T>C MANE Select | NP_071414.2:p.Ile331Thr |