Linked Data
dbSNP Id:
rs1568043314
gnomAD v2:
17-61566308-T-C
gnomAD v4:
17-63488947-T-C
MyVariant Identifiers:
chr17:g.61566308T>C (hg19)
chr17:g.61566308_61566309delinsCA (hg19)
chr17:g.63488947T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488947T>C , CM000679.2:g.63488947T>C | GRCh38 |
| NC_000017.10:g.61566308T>C , CM000679.1:g.61566308T>C | GRCh37 |
| NC_000017.9:g.58920040T>C | NCBI36 |
| NG_011648.1:g.16875T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2456T>C MANE Select | ENSP00000290866.4:p.Val819Ala | |
| ENST00000290863.10:c.734T>C | ENSP00000290863.6:p.Val245Ala | |
| ENST00000290866.9:c.2456T>C | ENSP00000290866.4:p.Val819Ala | |
| ENST00000413513.7:c.734T>C | ENSP00000392247.3:p.Val245Ala | |
| ENST00000428043.5:c.2456T>C | ENSP00000397593.2:p.Val819Ala | |
| ENST00000577647.2:c.734T>C | ENSP00000464149.1:p.Val245Ala | |
| ENST00000578839.5:c.*519+156T>C | ENSP00000462110.2:n.*519+156T>C | |
| ENST00000579204.1:c.715T>C | ENSP00000464629.1:n.715T>C | |
| ENST00000579314.5:c.*185T>C | ENSP00000462599.1:n.*185T>C | |
| ENST00000582005.5:c.*376T>C | ENSP00000462002.1:n.*376T>C | |
| ENST00000582761.1:c.224T>C | ENSP00000462909.1:p.Val75Ala | |
| ENST00000584865.5:n.402T>C | ||
| NM_000789.3:c.2456T>C | NP_000780.1:p.Val819Ala | |
| NM_001178057.1:c.734T>C | NP_001171528.1:p.Val245Ala | |
| NM_152830.2:c.734T>C | NP_690043.1:p.Val245Ala | |
| XM_005257110.1:c.1907T>C | XP_005257167.1:p.Val636Ala | |
| XM_006721737.2:c.794T>C | XP_006721800.2:p.Val265Ala | |
| XM_006721737.3:c.794T>C | XP_006721800.2:p.Val265Ala | |
| NM_000789.4:c.2456T>C MANE Select | NP_000780.1:p.Val819Ala | |
| NM_001178057.2:c.734T>C | NP_001171528.1:p.Val245Ala | |
| NM_152830.3:c.734T>C | NP_690043.1:p.Val245Ala | |
| NM_001382700.1:c.1889T>C | NP_001369629.1:p.Val630Ala | |
| NM_001382701.1:c.1604T>C | NP_001369630.1:p.Val535Ala | |
| NM_001382702.1:c.379+156T>C | NP_001369631.1:n.379+156T>C | |
| NR_168483.1:n.834T>C |