Linked Data
ClinVar Variation Id:
1595187
ClinVar RCV Id:
RCV002109434
dbSNP Id:
rs201680153
ExAC:
6:53372414 T / C
gnomAD v2:
6-53372414-T-C
gnomAD v3:
6-53507616-T-C
gnomAD v4:
6-53507616-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53507616T>C , CM000668.2:g.53507616T>C | GRCh38 |
| NC_000006.11:g.53372414T>C , CM000668.1:g.53372414T>C | GRCh37 |
| NC_000006.10:g.53480373T>C | NCBI36 |
| NG_012071.1:g.42418A>G | |
| NG_012071.2:g.42514A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.834A>G | ENSP00000424211.2:p.Pro278= | |
| ENST00000616923.5:c.789A>G | ENSP00000482756.2:p.Pro263= | |
| ENST00000643939.1:c.954A>G | ENSP00000495686.1:p.Pro318= | |
| ENST00000650454.1:c.948A>G MANE Select | ENSP00000497574.1:p.Pro316= | |
| ENST00000229416.10:c.948A>G | ENSP00000229416.6:p.Pro316= | |
| ENST00000509541.5:n.1393A>G | ||
| ENST00000616923.4:c.834A>G | ENSP00000482756.1:p.Pro278= | |
| NM_001197115.1:c.834A>G | NP_001184044.1:p.Pro278= | |
| NM_001498.3:c.948A>G | NP_001489.1:p.Pro316= | |
| NM_001498.4:c.948A>G MANE Select | NP_001489.1:p.Pro316= | |
| XM_017010749.1:c.237A>G | XP_016866238.1:p.Pro79= | |
| NM_001197115.2:c.834A>G | NP_001184044.1:p.Pro278= |