Linked Data
gnomAD v4:
7-142957739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957739C>T , CM000669.2:g.142957739C>T | GRCh38 |
| NC_000007.13:g.142654826C>T , CM000669.1:g.142654826C>T | GRCh37 |
| NC_000007.12:g.142364948C>T | NCBI36 |
| NG_007492.1:g.9678G>A | |
| NG_007492.2:g.9678G>A | |
| NG_007492.3:g.9678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.672+88G>A MANE Select | ENSP00000347409.2:n.672+88G>A | |
| ENST00000355265.6:c.672+88G>A | ENSP00000347409.2:n.672+88G>A | |
| ENST00000476829.5:c.525+565G>A | ENSP00000419889.1:n.525+565G>A | |
| ENST00000479768.6:n.790+88G>A | ||
| ENST00000494148.1:n.271+88G>A | ||
| NM_000420.2:c.672+88G>A | NP_000411.1:n.672+88G>A | |
| XM_005249993.2:c.708+88G>A | XP_005250050.1:n.708+88G>A | |
| NM_000420.3:c.672+88G>A MANE Select | NP_000411.1:n.672+88G>A |