Linked Data
ClinVar Variation Id:
2701213
ClinVar RCV Id:
RCV003549594
dbSNP Id:
rs138182427
ExAC:
1:36565773 G / C
gnomAD v2:
1-36565773-G-C
gnomAD v3:
1-36100172-G-C
gnomAD v4:
1-36100172-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36100172G>C , CM000663.2:g.36100172G>C | GRCh38 |
| NC_000001.10:g.36565773G>C , CM000663.1:g.36565773G>C | GRCh37 |
| NC_000001.9:g.36338360G>C | NCBI36 |
| NG_016245.2:g.29913C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.71C>G MANE Select | ENSP00000380901.1:p.Pro24Arg | |
| ENST00000303143.9:c.71C>G | ENSP00000305913.4:p.Pro24Arg | |
| ENST00000397799.1:c.71C>G | ENSP00000380901.1:p.Pro24Arg | |
| ENST00000481785.1:c.-3+23C>G | ENSP00000436433.1:n.-3+23C>G | |
| ENST00000615990.1:c.71C>G | ENSP00000484406.1:p.Pro24Arg | |
| NM_001294347.1:c.-3+23C>G | NP_001281276.1:n.-3+23C>G | |
| NM_005202.3:c.71C>G | NP_005193.1:p.Pro24Arg | |
| XM_005270477.2:c.302C>G | XP_005270534.1:p.Pro101Arg | |
| XM_005270477.3:c.302C>G | XP_005270534.1:p.Pro101Arg | |
| NM_005202.4:c.71C>G MANE Select | NP_005193.1:p.Pro24Arg | |
| NM_001294347.2:c.-3+23C>G | NP_001281276.1:n.-3+23C>G |