Linked Data
ClinVar Variation Id:
2155289
ClinVar RCV Id:
RCV003072262
dbSNP Id:
rs370107124
ExAC:
10:73594250 G / A
gnomAD v2:
10-73594250-G-A
gnomAD v3:
10-71834493-G-A
gnomAD v4:
10-71834493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71834493G>A , CM000672.2:g.71834493G>A | GRCh38 |
| NC_000010.10:g.73594250G>A , CM000672.1:g.73594250G>A | GRCh37 |
| NC_000010.9:g.73264256G>A | NCBI36 |
| NG_009301.1:g.21833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.53C>T MANE Select | ENSP00000378394.3:p.Pro18Leu | |
| ENST00000394934.4:c.53C>T | ENSP00000378392.2:p.Pro18Leu | |
| ENST00000394936.7:c.53C>T | ENSP00000378394.3:p.Pro18Leu | |
| ENST00000610929.3:c.53C>T | ENSP00000480857.1:p.Pro18Leu | |
| NM_001042465.1:c.53C>T | NP_001035930.1:p.Pro18Leu | |
| NM_001042466.1:c.53C>T | NP_001035931.1:p.Pro18Leu | |
| NM_002778.2:c.53C>T | NP_002769.1:p.Pro18Leu | |
| NM_001042465.2:c.53C>T | NP_001035930.1:p.Pro18Leu | |
| NM_001042466.2:c.53C>T | NP_001035931.1:p.Pro18Leu | |
| NM_002778.3:c.53C>T | NP_002769.1:p.Pro18Leu | |
| NM_002778.4:c.53C>T MANE Select | NP_002769.1:p.Pro18Leu | |
| NM_001042465.3:c.53C>T | NP_001035930.1:p.Pro18Leu | |
| NM_001042466.3:c.53C>T | NP_001035931.1:p.Pro18Leu |