Linked Data
ClinVar Variation Id:
13371
ClinVar RCV Id:
RCV000014300
dbSNP Id:
rs121918109
gnomAD v4:
10-71819527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819527G>A , CM000672.2:g.71819527G>A | GRCh38 |
| NC_000010.10:g.73579284G>A , CM000672.1:g.73579284G>A | GRCh37 |
| NC_000010.9:g.73249290G>A | NCBI36 |
| NG_009301.1:g.36799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1288C>T MANE Select | ENSP00000378394.3:p.Gln430Ter | |
| ENST00000394934.4:c.1297C>T | ENSP00000378392.2:p.Gln433Ter | |
| ENST00000394936.7:c.1288C>T | ENSP00000378394.3:p.Gln430Ter | |
| ENST00000610929.3:c.436C>T | ENSP00000480857.1:p.Gln146Ter | |
| NM_001042465.1:c.1297C>T | NP_001035930.1:p.Gln433Ter | |
| NM_001042466.1:c.1294C>T | NP_001035931.1:p.Gln432Ter | |
| NM_002778.2:c.1288C>T | NP_002769.1:p.Gln430Ter | |
| NM_001042465.2:c.1297C>T | NP_001035930.1:p.Gln433Ter | |
| NM_001042466.2:c.1294C>T | NP_001035931.1:p.Gln432Ter | |
| NM_002778.3:c.1288C>T | NP_002769.1:p.Gln430Ter | |
| NM_002778.4:c.1288C>T MANE Select | NP_002769.1:p.Gln430Ter | |
| NM_001042465.3:c.1297C>T | NP_001035930.1:p.Gln433Ter | |
| NM_001042466.3:c.1294C>T | NP_001035931.1:p.Gln432Ter |