Linked Data
gnomAD v4:
7-17339819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339819C>T , CM000669.2:g.17339819C>T | GRCh38 |
| NC_000007.13:g.17379443C>T , CM000669.1:g.17379443C>T | GRCh37 |
| NC_000007.12:g.17345968C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1994C>T MANE Select | ENSP00000242057.4:p.Pro665Leu | |
| ENST00000637807.1:c.1964C>T | ENSP00000490530.1:p.Pro655Leu | |
| ENST00000642825.1:c.1949C>T | ENSP00000495987.1:p.Pro650Leu | |
| ENST00000242057.8:c.1994C>T | ENSP00000242057.4:p.Pro665Leu | |
| ENST00000463496.1:c.1994C>T | ENSP00000436466.1:p.Pro665Leu | |
| NM_001621.4:c.1994C>T | NP_001612.1:p.Pro665Leu | |
| NM_001621.5:c.1994C>T MANE Select | NP_001612.1:p.Pro665Leu |