Linked Data
ClinVar Variation Id:
2805514
ClinVar RCV Id:
RCV003607779
dbSNP Id:
rs763054985
ExAC:
2:31754439 T / C
gnomAD v2:
2-31754439-T-C
gnomAD v4:
2-31529369-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529369T>C , CM000664.2:g.31529369T>C | GRCh38 |
| NC_000002.11:g.31754439T>C , CM000664.1:g.31754439T>C | GRCh37 |
| NC_000002.10:g.31607943T>C | NCBI36 |
| NG_008365.1:g.56603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.636A>G MANE Select | ENSP00000477587.1:p.Pro212= | |
| ENST00000622030.1:c.636A>G | ENSP00000477587.1:p.Pro212= | |
| NM_000348.3:c.636A>G | NP_000339.2:p.Pro212= | |
| XM_011533069.1:c.414A>G | XP_011531371.1:p.Pro138= | |
| XM_011533070.1:c.381A>G | XP_011531372.1:p.Pro127= | |
| XM_011533071.1:c.381A>G | XP_011531373.1:p.Pro127= | |
| XM_011533072.1:c.381A>G | XP_011531374.1:p.Pro127= | |
| XM_011533069.2:c.414A>G | XP_011531371.1:p.Pro138= | |
| XM_011533072.2:c.381A>G | XP_011531374.1:p.Pro127= | |
| NM_000348.4:c.636A>G MANE Select | NP_000339.2:p.Pro212= |