Linked Data
gnomAD v4:
19-6713507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713507A>G , CM000681.2:g.6713507A>G | GRCh38 |
| NC_000019.9:g.6713518A>G , CM000681.1:g.6713518A>G | GRCh37 |
| NC_000019.8:g.6664518A>G | NCBI36 |
| NG_009557.1:g.12145T>C , LRG_27:g.12145T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.653T>C | ENSP00000512083.1:p.Phe218Ser | |
| ENST00000695692.1:n.100T>C | ||
| ENST00000245907.11:c.776T>C MANE Select | ENSP00000245907.4:p.Phe259Ser | |
| ENST00000245907.10:c.776T>C | ENSP00000245907.4:p.Phe259Ser | |
| ENST00000595577.1:n.280T>C | ||
| ENST00000597442.5:n.26T>C | ||
| NM_000064.3:c.776T>C | NP_000055.2:p.Phe259Ser | |
| NM_000064.4:c.776T>C MANE Select | NP_000055.2:p.Phe259Ser |