Linked Data
gnomAD v4:
8-96145245-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145245A>T , CM000670.2:g.96145245A>T | GRCh38 |
| NC_000008.10:g.97157473A>T , CM000670.1:g.97157473A>T | GRCh37 |
| NC_000008.9:g.97226649A>T | NCBI36 |
| NG_008981.1:g.20548T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.686T>A MANE Select | ENSP00000287020.4:p.Leu229Gln | |
| ENST00000287020.6:c.686T>A | ENSP00000287020.4:p.Leu229Gln | |
| ENST00000620978.1:c.686T>A | ENSP00000480170.1:p.Leu229Gln | |
| ENST00000621429.1:c.686T>A | ENSP00000483711.1:p.Leu229Gln | |
| NM_001001557.2:c.686T>A | NP_001001557.1:p.Leu229Gln | |
| XM_011517030.1:c.287T>A | XP_011515332.1:p.Leu96Gln | |
| NM_001001557.3:c.686T>A | NP_001001557.1:p.Leu229Gln | |
| NM_001001557.4:c.686T>A MANE Select | NP_001001557.1:p.Leu229Gln |