Linked Data
ClinVar Variation Id:
309895
ClinVar RCV Id:
RCV000840091
dbSNP Id:
rs77915386
ExAC:
12:57422576 T / G
gnomAD v2:
12-57422576-T-G
gnomAD v3:
12-57028792-T-G
gnomAD v4:
12-57028792-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57028792T>G , CM000674.2:g.57028792T>G | GRCh38 |
| NC_000012.11:g.57422576T>G , CM000674.1:g.57422576T>G | GRCh37 |
| NC_000012.10:g.55708843T>G | NCBI36 |
| NG_012104.1:g.26318A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.3095A>C (MYO1A) MANE Select | ENSP00000300119.3:p.Lys1032Thr | |
| ENST00000300119.7:c.3095A>C (MYO1A) | ENSP00000300119.3:p.Lys1032Thr | |
| ENST00000415231.1:c.-130A>C (TAC3) | ENSP00000402995.1:n.-130A>C | |
| ENST00000442789.6:c.3095A>C (MYO1A) | ENSP00000393392.2:p.Lys1032Thr | |
| ENST00000554234.5:c.*540A>C (MYO1A) | ENSP00000451033.1:n.*540A>C | |
| NM_001256041.1:c.3095A>C (MYO1A) | NP_001242970.1:p.Lys1032Thr | |
| NM_005379.3:c.3095A>C (MYO1A) | NP_005370.1:p.Lys1032Thr | |
| NM_005379.4:c.3095A>C (MYO1A) MANE Select | NP_005370.1:p.Lys1032Thr | |
| NM_001256041.2:c.3095A>C (MYO1A) | NP_001242970.1:p.Lys1032Thr |