Linked Data
dbSNP Id:
rs61738817
ExAC:
17:61566085 G / C
gnomAD v2:
17-61566085-G-C
gnomAD v4:
17-63488724-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488724G>C , CM000679.2:g.63488724G>C | GRCh38 |
| NC_000017.10:g.61566085G>C , CM000679.1:g.61566085G>C | GRCh37 |
| NC_000017.9:g.58919817G>C | NCBI36 |
| NG_011648.1:g.16652G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2382G>C MANE Select | ENSP00000290866.4:p.Ala794= | |
| ENST00000290863.10:c.660G>C | ENSP00000290863.6:p.Ala220= | |
| ENST00000290866.9:c.2382G>C | ENSP00000290866.4:p.Ala794= | |
| ENST00000413513.7:c.660G>C | ENSP00000392247.3:p.Ala220= | |
| ENST00000428043.5:c.2382G>C | ENSP00000397593.2:p.Ala794= | |
| ENST00000577647.2:c.660G>C | ENSP00000464149.1:p.Ala220= | |
| ENST00000578839.5:c.*452G>C | ENSP00000462110.2:n.*452G>C | |
| ENST00000579204.1:c.641G>C | ENSP00000464629.1:n.641G>C | |
| ENST00000579314.5:c.*111G>C | ENSP00000462599.1:n.*111G>C | |
| ENST00000582005.5:c.*302G>C | ENSP00000462002.1:n.*302G>C | |
| ENST00000582761.1:c.150G>C | ENSP00000462909.1:p.Ala50= | |
| ENST00000584865.5:n.328G>C | ||
| NM_000789.3:c.2382G>C | NP_000780.1:p.Ala794= | |
| NM_001178057.1:c.660G>C | NP_001171528.1:p.Ala220= | |
| NM_152830.2:c.660G>C | NP_690043.1:p.Ala220= | |
| XM_005257110.1:c.1833G>C | XP_005257167.1:p.Ala611= | |
| XM_006721737.2:c.720G>C | XP_006721800.2:p.Ala240= | |
| XM_006721737.3:c.720G>C | XP_006721800.2:p.Ala240= | |
| NM_000789.4:c.2382G>C MANE Select | NP_000780.1:p.Ala794= | |
| NM_001178057.2:c.660G>C | NP_001171528.1:p.Ala220= | |
| NM_152830.3:c.660G>C | NP_690043.1:p.Ala220= | |
| NM_001382700.1:c.1815G>C | NP_001369629.1:p.Ala605= | |
| NM_001382701.1:c.1530G>C | NP_001369630.1:p.Ala510= | |
| NM_001382702.1:c.312G>C | NP_001369631.1:p.Ala104= | |
| NR_168483.1:n.760G>C |