Linked Data
dbSNP Id:
rs1124480
gnomAD v2:
3-13857969-T-C
gnomAD v3:
3-13816472-T-C
gnomAD v4:
3-13816472-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13816472T>C , CM000665.2:g.13816472T>C | GRCh38 |
| NC_000003.11:g.13857969T>C , CM000665.1:g.13857969T>C | GRCh37 |
| NC_000003.10:g.13832970T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285018.5:c.*2472A>G MANE Select | ENSP00000285018.4:n.*2472A>G | |
| ENST00000285018.4:c.*2472A>G | ENSP00000285018.4:n.*2472A>G | |
| NM_004625.4:c.*2472A>G MANE Select | NP_004616.2:n.*2472A>G |