Linked Data
ClinVar Variation Id:
2918135
ClinVar RCV Id:
RCV003737969
dbSNP Id:
rs373070689
ExAC:
11:128680412 C / T
gnomAD v2:
11-128680412-C-T
gnomAD v3:
11-128810517-C-T
gnomAD v4:
11-128810517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810517C>T , CM000673.2:g.128810517C>T | GRCh38 |
| NC_000011.9:g.128680412C>T , CM000673.1:g.128680412C>T | GRCh37 |
| NC_000011.8:g.128185622C>T | NCBI36 |
| NG_032912.1:g.128983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.909C>T | ENSP00000513017.1:p.Asn303= | |
| ENST00000527786.7:c.888C>T MANE Select | ENSP00000433488.2:p.Asn296= | |
| ENST00000281428.12:c.690C>T | ENSP00000281428.8:p.Asn230= | |
| ENST00000344954.10:c.309C>T | ENSP00000339627.7:p.Asn103= | |
| ENST00000429175.7:c.*810C>T | ENSP00000399985.3:n.*810C>T | |
| ENST00000527786.6:c.888C>T | ENSP00000433488.2:p.Asn296= | |
| ENST00000528790.1:n.3471C>T | ||
| ENST00000534087.3:c.789C>T | ENSP00000432950.1:p.Asn263= | |
| ENST00000608303.5:c.*280C>T | ENSP00000477262.1:n.*280C>T | |
| NM_001167681.2:c.789C>T | NP_001161153.1:p.Asn263= | |
| NM_001271010.1:c.690C>T | NP_001257939.1:p.Asn230= | |
| NM_001271012.1:c.309C>T | NP_001257941.1:p.Asn103= | |
| NM_002017.4:c.888C>T | NP_002008.2:p.Asn296= | |
| XM_011542701.1:c.789C>T | XP_011541003.1:p.Asn263= | |
| XM_011542702.1:c.762C>T | XP_011541004.1:p.Asn254= | |
| XM_011542701.2:c.789C>T | XP_011541003.1:p.Asn263= | |
| XM_017017405.1:c.789C>T | XP_016872894.1:p.Asn263= | |
| XM_017017406.1:c.789C>T | XP_016872895.1:p.Asn263= | |
| NM_002017.5:c.888C>T MANE Select | NP_002008.2:p.Asn296= | |
| NM_001167681.3:c.789C>T | NP_001161153.1:p.Asn263= | |
| NM_001271010.2:c.690C>T | NP_001257939.1:p.Asn230= | |
| NM_001271012.2:c.309C>T | NP_001257941.1:p.Asn103= |