Linked Data
dbSNP Id:
rs4713354
gnomAD v2:
6-30685420-A-C
gnomAD v3:
6-30717643-A-C
gnomAD v4:
6-30717643-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30717643A>C , CM000668.2:g.30717643A>C | GRCh38 |
| NC_000006.11:g.30685420A>C , CM000668.1:g.30685420A>C | GRCh37 |
| NC_000006.10:g.30793399A>C | NCBI36 |
| NG_034142.1:g.2443A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681435.1:c.-160+4A>C (TUBB) | ENSP00000506665.1:n.-160+4A>C | |
| ENST00000376406.7:c.-402T>G (MDC1) | ENSP00000365588.3:n.-402T>G | |
| NM_014641.2:c.-402T>G (MDC1) | NP_055456.2:n.-402T>G | |
| XM_005249494.3:c.-398T>G (MDC1) | XP_005249551.1:n.-398T>G | |
| XM_005249494.5:c.-398T>G (MDC1) | XP_005249551.1:n.-398T>G |