Linked Data
gnomAD v4:
7-152649114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649114G>A , CM000669.2:g.152649114G>A | GRCh38 |
| NC_000007.13:g.152346199G>A , CM000669.1:g.152346199G>A | GRCh37 |
| NC_000007.12:g.151977132G>A | NCBI36 |
| NG_027988.1:g.32052C>T | |
| NG_027988.2:g.32052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.203C>T | ENSP00000513758.1:p.Thr68Ile | |
| ENST00000359321.2:c.371C>T MANE Select | ENSP00000352271.1:p.Thr124Ile | |
| ENST00000359321.1:c.371C>T | ENSP00000352271.1:p.Thr124Ile | |
| ENST00000495707.1:n.393C>T | ||
| NM_005431.1:c.371C>T | NP_005422.1:p.Thr124Ile | |
| NM_005431.2:c.371C>T MANE Select | NP_005422.1:p.Thr124Ile |