Linked Data
gnomAD v4:
5-140114230-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114230T>C , CM000667.2:g.140114230T>C | GRCh38 |
| NC_000005.9:g.139493815T>C , CM000667.1:g.139493815T>C | GRCh37 |
| NC_000005.8:g.139473999T>C | NCBI36 |
| NG_041813.1:g.5108T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.49T>C MANE Select | ENSP00000332706.3:p.Ser17Pro | |
| ENST00000505703.2:c.49T>C | ENSP00000498560.1:p.Ser17Pro | |
| ENST00000651386.1:c.49T>C | ENSP00000499133.1:p.Ser17Pro | |
| ENST00000331327.4:c.49T>C | ENSP00000332706.3:p.Ser17Pro | |
| ENST00000502351.1:n.472T>C | ||
| ENST00000505703.1:n.514T>C | ||
| NM_005859.4:c.49T>C | NP_005850.1:p.Ser17Pro | |
| NM_005859.5:c.49T>C MANE Select | NP_005850.1:p.Ser17Pro |