Linked Data
dbSNP Id:
rs4713354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30717643A>T , CM000668.2:g.30717643A>T | GRCh38 |
| NC_000006.11:g.30685420A>T , CM000668.1:g.30685420A>T | GRCh37 |
| NC_000006.10:g.30793399A>T | NCBI36 |
| NG_034142.1:g.2443A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681435.1:c.-160+4A>T (TUBB) | ENSP00000506665.1:n.-160+4A>T | |
| ENST00000376406.7:c.-402T>A (MDC1) | ENSP00000365588.3:n.-402T>A | |
| NM_014641.2:c.-402T>A (MDC1) | NP_055456.2:n.-402T>A | |
| XM_005249494.3:c.-398T>A (MDC1) | XP_005249551.1:n.-398T>A | |
| XM_005249494.5:c.-398T>A (MDC1) | XP_005249551.1:n.-398T>A |