Linked Data
dbSNP Id:
rs781440953
ExAC:
10:96827040 T / A
gnomAD v2:
10-96827040-T-A
gnomAD v3:
10-95067283-T-A
gnomAD v4:
10-95067283-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067283T>A , CM000672.2:g.95067283T>A | GRCh38 |
| NC_000010.10:g.96827040T>A , CM000672.1:g.96827040T>A | GRCh37 |
| NC_000010.9:g.96817030T>A | NCBI36 |
| NG_007972.1:g.7215A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.406A>T MANE Select | ENSP00000360317.3:p.Met136Leu | |
| ENST00000371270.5:c.406A>T | ENSP00000360317.3:p.Met136Leu | |
| ENST00000479946.2:n.710A>T | ||
| ENST00000490994.6:c.*192A>T | ENSP00000433314.1:n.*192A>T | |
| ENST00000525991.5:c.281A>T | ENSP00000433842.1:p.Asp94Val | |
| ENST00000526814.5:n.661A>T | ||
| ENST00000527420.5:c.406A>T | ENSP00000433191.1:p.Met136Leu | |
| ENST00000527953.5:n.661A>T | ||
| ENST00000533320.5:n.640A>T | ||
| ENST00000535898.5:c.100A>T | ENSP00000445062.1:p.Met34Leu | |
| ENST00000539050.5:c.196A>T | ENSP00000442343.2:p.Met66Leu | |
| ENST00000623108.3:c.196A>T | ENSP00000485110.1:p.Met66Leu | |
| ENST00000628935.1:c.148A>T | ENSP00000487145.1:p.Met50Leu | |
| NM_000770.3:c.406A>T MANE Select | NP_000761.3:p.Met136Leu | |
| NM_001198853.1:c.196A>T | NP_001185782.1:p.Met66Leu | |
| NM_001198854.1:c.100A>T | NP_001185783.1:p.Met34Leu | |
| NM_001198855.1:c.196A>T | NP_001185784.1:p.Met66Leu | |
| XR_945610.1:n.502A>T |