Linked Data
gnomAD v3:
11-128810601-G-C
gnomAD v4:
11-128810601-G-C
MyVariant Identifiers:
chr11:g.128680496G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810601G>C , CM000673.2:g.128810601G>C | GRCh38 |
| NC_000011.9:g.128680496G>C , CM000673.1:g.128680496G>C | GRCh37 |
| NC_000011.8:g.128185706G>C | NCBI36 |
| NG_032912.1:g.129067G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.993G>C | ENSP00000513017.1:p.Arg331= | |
| ENST00000527786.7:c.972G>C MANE Select | ENSP00000433488.2:p.Arg324= | |
| ENST00000281428.12:c.774G>C | ENSP00000281428.8:p.Arg258= | |
| ENST00000344954.10:c.393G>C | ENSP00000339627.7:p.Arg131= | |
| ENST00000429175.7:c.*894G>C | ENSP00000399985.3:n.*894G>C | |
| ENST00000527786.6:c.972G>C | ENSP00000433488.2:p.Arg324= | |
| ENST00000528790.1:n.3555G>C | ||
| ENST00000534087.3:c.873G>C | ENSP00000432950.1:p.Arg291= | |
| ENST00000608303.5:c.*364G>C | ENSP00000477262.1:n.*364G>C | |
| NM_001167681.2:c.873G>C | NP_001161153.1:p.Arg291= | |
| NM_001271010.1:c.774G>C | NP_001257939.1:p.Arg258= | |
| NM_001271012.1:c.393G>C | NP_001257941.1:p.Arg131= | |
| NM_002017.4:c.972G>C | NP_002008.2:p.Arg324= | |
| XM_011542701.1:c.873G>C | XP_011541003.1:p.Arg291= | |
| XM_011542702.1:c.846G>C | XP_011541004.1:p.Arg282= | |
| XM_011542701.2:c.873G>C | XP_011541003.1:p.Arg291= | |
| XM_017017405.1:c.873G>C | XP_016872894.1:p.Arg291= | |
| XM_017017406.1:c.873G>C | XP_016872895.1:p.Arg291= | |
| NM_002017.5:c.972G>C MANE Select | NP_002008.2:p.Arg324= | |
| NM_001167681.3:c.873G>C | NP_001161153.1:p.Arg291= | |
| NM_001271010.2:c.774G>C | NP_001257939.1:p.Arg258= | |
| NM_001271012.2:c.393G>C | NP_001257941.1:p.Arg131= |