Linked Data
ClinVar Variation Id:
496839
dbSNP Id:
rs147112151
ExAC:
9:103054852 T / C
gnomAD v2:
9-103054852-T-C
gnomAD v3:
9-100292570-T-C
gnomAD v4:
9-100292570-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100292570T>C , CM000671.2:g.100292570T>C | GRCh38 |
| NC_000009.11:g.103054852T>C , CM000671.1:g.103054852T>C | GRCh37 |
| NC_000009.10:g.102094673T>C | NCBI36 |
| NG_008316.1:g.198342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.2313T>C MANE Select | ENSP00000262457.2:p.Asp771= | |
| ENST00000262456.6:c.2179+134T>C | ENSP00000262456.2:n.2179+134T>C | |
| ENST00000262457.6:c.2313T>C | ENSP00000262457.2:p.Asp771= | |
| NM_014425.3:c.2313T>C | NP_055240.2:p.Asp771= | |
| NM_183245.2:c.2179+134T>C | NP_899068.1:n.2179+134T>C | |
| NR_051962.1:n.2622T>C | ||
| XM_005251923.3:c.2313T>C | XP_005251980.1:p.Asp771= | |
| XM_005251924.3:c.2025T>C | XP_005251981.1:p.Asp675= | |
| XM_011518531.1:c.2313T>C | XP_011516833.1:p.Asp771= | |
| XM_011518532.1:c.2313T>C | XP_011516834.1:p.Asp771= | |
| XM_011518533.1:c.2313T>C | XP_011516835.1:p.Asp771= | |
| XM_011518534.1:c.2025T>C | XP_011516836.1:p.Asp675= | |
| XM_011518535.1:c.2025T>C | XP_011516837.1:p.Asp675= | |
| XM_011518536.1:c.2025T>C | XP_011516838.1:p.Asp675= | |
| XM_011518537.1:c.2025T>C | XP_011516839.1:p.Asp675= | |
| XM_011518538.1:c.2025T>C | XP_011516840.1:p.Asp675= | |
| XM_011518539.1:c.1992T>C | XP_011516841.1:p.Asp664= | |
| XM_011518540.1:c.1992T>C | XP_011516842.1:p.Asp664= | |
| XM_011518541.1:c.1992T>C | XP_011516843.1:p.Asp664= | |
| XM_011518542.1:c.1891+134T>C | XP_011516844.1:n.1891+134T>C | |
| XM_011518543.1:c.1335T>C | XP_011516845.1:p.Asp445= | |
| XM_011518544.1:c.1335T>C | XP_011516846.1:p.Asp445= | |
| XR_242585.1:n.2569T>C | ||
| XR_242586.1:n.2520T>C | ||
| XR_428522.1:n.2386+134T>C | ||
| NM_001318381.1:c.2025T>C | NP_001305310.1:p.Asp675= | |
| NM_001318382.1:c.1335T>C | NP_001305311.1:p.Asp445= | |
| NM_014425.4:c.2313T>C | NP_055240.2:p.Asp771= | |
| NR_134606.1:n.2520T>C | ||
| NM_014425.5:c.2313T>C MANE Select | NP_055240.2:p.Asp771= | |
| NM_001318381.2:c.2025T>C | NP_001305310.1:p.Asp675= | |
| NM_001318382.2:c.1335T>C | NP_001305311.1:p.Asp445= | |
| NR_134606.2:n.2462T>C |