Linked Data
ClinVar Variation Id:
2638654
ClinVar RCV Id:
RCV003406330
dbSNP Id:
rs543753358
ExAC:
1:36031042 C / T
gnomAD v2:
1-36031042-C-T
gnomAD v3:
1-35565441-C-T
gnomAD v4:
1-35565441-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35565441C>T , CM000663.2:g.35565441C>T | GRCh38 |
| NC_000001.10:g.36031042C>T , CM000663.1:g.36031042C>T | GRCh37 |
| NC_000001.9:g.35803629C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.1968C>T MANE Select | ENSP00000362340.2:p.Pro656= | |
| ENST00000356090.8:c.1968C>T | ENSP00000348394.4:p.Pro656= | |
| ENST00000373243.6:c.1968C>T | ENSP00000362340.2:p.Pro656= | |
| ENST00000373253.7:c.1917C>T | ENSP00000362350.3:p.Pro639= | |
| ENST00000423723.1:c.535-1382C>T | ||
| NM_001014839.1:c.1968C>T | NP_001014839.1:p.Pro656= | |
| NM_001014841.1:c.1917C>T | NP_001014841.1:p.Pro639= | |
| NM_014284.2:c.1968C>T | NP_055099.1:p.Pro656= | |
| NM_014284.3:c.1968C>T MANE Select | NP_055099.1:p.Pro656= | |
| NM_001014839.2:c.1968C>T | NP_001014839.1:p.Pro656= | |
| NM_001014841.2:c.1917C>T | NP_001014841.1:p.Pro639= |