Linked Data
gnomAD v4:
X-100667205-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100667205A>T , CM000685.2:g.100667205A>T | GRCh38 |
| NC_000023.10:g.99922202A>T , CM000685.1:g.99922202A>T | GRCh37 |
| NC_000023.9:g.99808858A>T | NCBI36 |
| NG_021337.1:g.28040A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.962-69A>T MANE Select | ENSP00000362095.3:n.962-69A>T | |
| ENST00000638920.1:n.965-69A>T | ||
| ENST00000640282.1:c.8-69A>T | ENSP00000491188.1:n.8-69A>T | |
| ENST00000677630.1:n.896-69A>T | ||
| ENST00000679590.1:n.995-69A>T | ||
| ENST00000373004.3:c.962-69A>T | ENSP00000362095.3:n.962-69A>T | |
| NM_014467.2:c.962-69A>T | NP_055282.1:n.962-69A>T | |
| XM_005262121.2:c.962-69A>T | XP_005262178.1:n.962-69A>T | |
| NM_014467.3:c.962-69A>T MANE Select | NP_055282.1:n.962-69A>T |