Linked Data
dbSNP Id:
rs1167904956
gnomAD v2:
11-128680469-T-C
gnomAD v3:
11-128810574-T-C
gnomAD v4:
11-128810574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810574T>C , CM000673.2:g.128810574T>C | GRCh38 |
| NC_000011.9:g.128680469T>C , CM000673.1:g.128680469T>C | GRCh37 |
| NC_000011.8:g.128185679T>C | NCBI36 |
| NG_032912.1:g.129040T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.966T>C | ENSP00000513017.1:p.Asp322= | |
| ENST00000527786.7:c.945T>C MANE Select | ENSP00000433488.2:p.Asp315= | |
| ENST00000281428.12:c.747T>C | ENSP00000281428.8:p.Asp249= | |
| ENST00000344954.10:c.366T>C | ENSP00000339627.7:p.Asp122= | |
| ENST00000429175.7:c.*867T>C | ENSP00000399985.3:n.*867T>C | |
| ENST00000527786.6:c.945T>C | ENSP00000433488.2:p.Asp315= | |
| ENST00000528790.1:n.3528T>C | ||
| ENST00000534087.3:c.846T>C | ENSP00000432950.1:p.Asp282= | |
| ENST00000608303.5:c.*337T>C | ENSP00000477262.1:n.*337T>C | |
| NM_001167681.2:c.846T>C | NP_001161153.1:p.Asp282= | |
| NM_001271010.1:c.747T>C | NP_001257939.1:p.Asp249= | |
| NM_001271012.1:c.366T>C | NP_001257941.1:p.Asp122= | |
| NM_002017.4:c.945T>C | NP_002008.2:p.Asp315= | |
| XM_011542701.1:c.846T>C | XP_011541003.1:p.Asp282= | |
| XM_011542702.1:c.819T>C | XP_011541004.1:p.Asp273= | |
| XM_011542701.2:c.846T>C | XP_011541003.1:p.Asp282= | |
| XM_017017405.1:c.846T>C | XP_016872894.1:p.Asp282= | |
| XM_017017406.1:c.846T>C | XP_016872895.1:p.Asp282= | |
| NM_002017.5:c.945T>C MANE Select | NP_002008.2:p.Asp315= | |
| NM_001167681.3:c.846T>C | NP_001161153.1:p.Asp282= | |
| NM_001271010.2:c.747T>C | NP_001257939.1:p.Asp249= | |
| NM_001271012.2:c.366T>C | NP_001257941.1:p.Asp122= |