Linked Data
ClinVar Variation Id:
476288
dbSNP Id:
rs146976883
ExAC:
1:179851707 C / G
gnomAD v2:
1-179851707-C-G
gnomAD v3:
1-179882572-C-G
gnomAD v4:
1-179882572-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179882572C>G , CM000663.2:g.179882572C>G | GRCh38 |
| NC_000001.10:g.179851707C>G , CM000663.1:g.179851707C>G | GRCh37 |
| NC_000001.9:g.178118330C>G | NCBI36 |
| NG_042316.1:g.5531C>G | |
| NG_053185.1:g.1043G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606911.7:c.70C>G MANE Select | ENSP00000476687.1:p.Pro24Ala | |
| ENST00000271583.7:c.70C>G | ENSP00000271583.3:p.Pro24Ala | |
| ENST00000528443.6:c.70C>G | ENSP00000435365.2:p.Pro24Ala | |
| ENST00000606911.6:c.70C>G | ENSP00000476687.1:p.Pro24Ala | |
| NM_001267578.1:c.70C>G | NP_001254507.1:p.Pro24Ala | |
| NM_015602.3:c.70C>G | NP_056417.2:p.Pro24Ala | |
| XM_011509403.1:c.70C>G | XP_011507705.1:p.Pro24Ala | |
| XM_011509404.1:c.70C>G | XP_011507706.1:p.Pro24Ala | |
| XM_011509403.2:c.70C>G | XP_011507705.1:p.Pro24Ala | |
| XM_011509404.2:c.70C>G | XP_011507706.1:p.Pro24Ala | |
| NM_001267578.2:c.70C>G | NP_001254507.1:p.Pro24Ala | |
| NM_015602.4:c.70C>G MANE Select | NP_056417.2:p.Pro24Ala |