Linked Data
ClinVar Variation Id:
1238677
ClinVar RCV Id:
RCV001639608
dbSNP Id:
rs61733405
ExAC:
11:128680466 C / G
gnomAD v2:
11-128680466-C-G
gnomAD v3:
11-128810571-C-G
gnomAD v4:
11-128810571-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810571C>G , CM000673.2:g.128810571C>G | GRCh38 |
| NC_000011.9:g.128680466C>G , CM000673.1:g.128680466C>G | GRCh37 |
| NC_000011.8:g.128185676C>G | NCBI36 |
| NG_032912.1:g.129037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.963C>G | ENSP00000513017.1:p.Pro321= | |
| ENST00000527786.7:c.942C>G MANE Select | ENSP00000433488.2:p.Pro314= | |
| ENST00000281428.12:c.744C>G | ENSP00000281428.8:p.Pro248= | |
| ENST00000344954.10:c.363C>G | ENSP00000339627.7:p.Pro121= | |
| ENST00000429175.7:c.*864C>G | ENSP00000399985.3:n.*864C>G | |
| ENST00000527786.6:c.942C>G | ENSP00000433488.2:p.Pro314= | |
| ENST00000528790.1:n.3525C>G | ||
| ENST00000534087.3:c.843C>G | ENSP00000432950.1:p.Pro281= | |
| ENST00000608303.5:c.*334C>G | ENSP00000477262.1:n.*334C>G | |
| NM_001167681.2:c.843C>G | NP_001161153.1:p.Pro281= | |
| NM_001271010.1:c.744C>G | NP_001257939.1:p.Pro248= | |
| NM_001271012.1:c.363C>G | NP_001257941.1:p.Pro121= | |
| NM_002017.4:c.942C>G | NP_002008.2:p.Pro314= | |
| XM_011542701.1:c.843C>G | XP_011541003.1:p.Pro281= | |
| XM_011542702.1:c.816C>G | XP_011541004.1:p.Pro272= | |
| XM_011542701.2:c.843C>G | XP_011541003.1:p.Pro281= | |
| XM_017017405.1:c.843C>G | XP_016872894.1:p.Pro281= | |
| XM_017017406.1:c.843C>G | XP_016872895.1:p.Pro281= | |
| NM_002017.5:c.942C>G MANE Select | NP_002008.2:p.Pro314= | |
| NM_001167681.3:c.843C>G | NP_001161153.1:p.Pro281= | |
| NM_001271010.2:c.744C>G | NP_001257939.1:p.Pro248= | |
| NM_001271012.2:c.363C>G | NP_001257941.1:p.Pro121= |