Linked Data
ClinVar Variation Id:
390992
dbSNP Id:
rs143723043
ExAC:
10:50824648 T / C
gnomAD v2:
10-50824648-T-C
gnomAD v3:
10-49616602-T-C
gnomAD v4:
10-49616602-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49616602T>C , CM000672.2:g.49616602T>C | GRCh38 |
| NC_000010.10:g.50824648T>C , CM000672.1:g.50824648T>C | GRCh37 |
| NC_000010.9:g.50494654T>C | NCBI36 |
| NG_011797.1:g.12508T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337653.7:c.387T>C MANE Select | ENSP00000337103.2:p.Ser129= | |
| ENST00000337653.6:c.387T>C | ENSP00000337103.2:p.Ser129= | |
| ENST00000339797.5:c.33T>C | ENSP00000343486.1:p.Ser11= | |
| ENST00000351556.7:c.33T>C | ENSP00000345878.3:p.Ser11= | |
| ENST00000395559.6:c.33T>C | ENSP00000378926.2:p.Ser11= | |
| ENST00000395562.2:c.141T>C | ENSP00000378929.2:p.Ser47= | |
| ENST00000460699.5:n.368T>C | ||
| ENST00000466590.6:c.*118T>C | ENSP00000473443.1:n.*118T>C | |
| ENST00000481336.5:n.185T>C | ||
| ENST00000490270.1:n.437T>C | ||
| NM_001142929.1:c.33T>C | NP_001136401.1:p.Ser11= | |
| NM_001142933.1:c.141T>C | NP_001136405.1:p.Ser47= | |
| NM_001142934.1:c.33T>C | NP_001136406.1:p.Ser11= | |
| NM_020549.4:c.387T>C | NP_065574.3:p.Ser129= | |
| NM_020984.3:c.33T>C | NP_066264.3:p.Ser11= | |
| NM_020985.3:c.33T>C | NP_066265.3:p.Ser11= | |
| NM_020986.3:c.33T>C | NP_066266.3:p.Ser11= | |
| NM_001142929.2:c.33T>C | NP_001136401.2:p.Ser11= | |
| NM_001142933.2:c.141T>C | NP_001136405.2:p.Ser47= | |
| NM_001142934.2:c.33T>C | NP_001136406.2:p.Ser11= | |
| NM_020549.5:c.387T>C MANE Select | NP_065574.4:p.Ser129= | |
| NM_020984.4:c.33T>C | NP_066264.4:p.Ser11= | |
| NM_020985.4:c.33T>C | NP_066265.4:p.Ser11= | |
| NM_020986.4:c.33T>C | NP_066266.4:p.Ser11= |