Linked Data
ClinVar Variation Id:
1319120
dbSNP Id:
rs917295547
gnomAD v2:
2-29445267-G-C
gnomAD v3:
2-29222401-G-C
gnomAD v4:
2-29222401-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222401G>C , CM000664.2:g.29222401G>C | GRCh38 |
| NC_000002.11:g.29445267G>C , CM000664.1:g.29445267G>C | GRCh37 |
| NC_000002.10:g.29298771G>C | NCBI36 |
| NG_009445.1:g.704166C>G , LRG_488:g.704166C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3458C>G MANE Select | ENSP00000373700.3:p.Pro1153Arg | |
| ENST00000431873.6:c.685C>G | ||
| ENST00000638605.1:n.335C>G | ||
| ENST00000642122.1:c.254C>G | ENSP00000493203.1:p.Pro85Arg | |
| ENST00000389048.7:c.3458C>G | ENSP00000373700.3:p.Pro1153Arg | |
| ENST00000431873.5:c.338C>G | ENSP00000414027.2:p.Pro113Arg | |
| ENST00000453137.1:c.152C>G | ENSP00000387488.1:p.Pro51Arg | |
| ENST00000618119.4:c.2327C>G | ENSP00000482733.1:p.Pro776Arg | |
| NM_004304.4:c.3458C>G | NP_004295.2:p.Pro1153Arg | |
| NM_001353765.1:c.254C>G | NP_001340694.1:p.Pro85Arg | |
| XM_024452778.1:c.611C>G | XP_024308546.1:p.Pro204Arg | |
| XM_024452779.1:c.254C>G | XP_024308547.1:p.Pro85Arg | |
| NM_004304.5:c.3458C>G MANE Select | NP_004295.2:p.Pro1153Arg | |
| NM_001353765.2:c.254C>G | NP_001340694.1:p.Pro85Arg |