Linked Data
ClinVar Variation Id:
2652064
ClinVar RCV Id:
RCV003440269
dbSNP Id:
rs151226622
ExAC:
2:239186555 G / A
gnomAD v2:
2-239186555-G-A
gnomAD v3:
2-238277914-G-A
gnomAD v4:
2-238277914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238277914G>A , CM000664.2:g.238277914G>A | GRCh38 |
| NC_000002.11:g.239186555G>A , CM000664.1:g.239186555G>A | GRCh37 |
| NC_000002.10:g.238851294G>A | NCBI36 |
| NG_012146.1:g.15653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707129.1:c.23C>T | ENSP00000516757.1:p.Pro8Leu | |
| ENST00000707130.1:c.23C>T | ENSP00000516758.1:p.Pro8Leu | |
| ENST00000254657.8:c.23C>T MANE Select | ENSP00000254657.3:p.Pro8Leu | |
| ENST00000254657.7:c.23C>T | ENSP00000254657.3:p.Pro8Leu | |
| ENST00000355768.6:c.23C>T | ENSP00000348013.2:p.Pro8Leu | |
| ENST00000431832.1:c.23C>T | ENSP00000405891.1:p.Pro8Leu | |
| NM_022817.2:c.23C>T | NP_073728.1:p.Pro8Leu | |
| XM_005246111.3:c.23C>T | XP_005246168.1:p.Pro8Leu | |
| XM_006712824.2:c.23C>T | XP_006712887.1:p.Pro8Leu | |
| XM_005246111.4:c.23C>T | XP_005246168.1:p.Pro8Leu | |
| XM_006712824.4:c.23C>T | XP_006712887.1:p.Pro8Leu | |
| NM_022817.3:c.23C>T MANE Select | NP_073728.1:p.Pro8Leu |