Linked Data
ClinVar Variation Id:
497211
dbSNP Id:
rs140753861
ExAC:
2:20166628 G / C
gnomAD v2:
2-20166628-G-C
gnomAD v3:
2-19966867-G-C
gnomAD v4:
2-19966867-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19966867G>C , CM000664.2:g.19966867G>C | GRCh38 |
| NC_000002.11:g.20166628G>C , CM000664.1:g.20166628G>C | GRCh37 |
| NC_000002.10:g.20030109G>C | NCBI36 |
| NG_021212.1:g.28257C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.1051C>G MANE Select | ENSP00000281405.5:p.Pro351Ala | |
| ENST00000345530.8:c.1051C>G MANE Plus Clinical | ENSP00000314444.5:p.Pro351Ala | |
| ENST00000281405.8:c.1051C>G | ENSP00000281405.4:p.Pro351Ala | |
| ENST00000345530.7:c.1051C>G | ENSP00000314444.5:p.Pro351Ala | |
| ENST00000414212.5:c.1051C>G | ENSP00000390802.1:p.Pro351Ala | |
| ENST00000445063.5:c.588C>G | ||
| NM_001006657.1:c.1051C>G | NP_001006658.1:p.Pro351Ala | |
| NM_020779.3:c.1051C>G | NP_065830.2:p.Pro351Ala | |
| XR_426989.2:n.1084C>G | ||
| XR_939699.1:n.1084C>G | ||
| XR_001738862.1:n.1084C>G | ||
| XR_426989.3:n.1084C>G | ||
| XR_939699.3:n.1084C>G | ||
| NM_001006657.2:c.1051C>G MANE Plus Clinical | NP_001006658.1:p.Pro351Ala | |
| NM_020779.4:c.1051C>G MANE Select | NP_065830.2:p.Pro351Ala |