Linked Data
dbSNP Id:
rs1203038445
gnomAD v2:
4-74321666-T-C
gnomAD v3:
4-73455949-T-C
gnomAD v4:
4-73455949-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73455949T>C , CM000666.2:g.73455949T>C | GRCh38 |
| NC_000004.11:g.74321666T>C , CM000666.1:g.74321666T>C | GRCh37 |
| NC_000004.10:g.74540530T>C | NCBI36 |
| NG_023028.1:g.24734T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.*329T>C MANE Select | ENSP00000379138.2:n.*329T>C | |
| ENST00000395792.6:c.*329T>C | ENSP00000379138.2:n.*329T>C | |
| NM_001134.3:c.*329T>C MANE Select | NP_001125.1:n.*329T>C | |
| NM_001354717.2:c.*329T>C | NP_001341646.2:n.*329T>C |