Linked Data
dbSNP Id:
rs1560511434
gnomAD v2:
4-55948035-G-A
gnomAD v3:
4-55081868-G-A
gnomAD v4:
4-55081868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081868G>A , CM000666.2:g.55081868G>A | GRCh38 |
| NC_000004.11:g.55948035G>A , CM000666.1:g.55948035G>A | GRCh37 |
| NC_000004.10:g.55642792G>A | NCBI36 |
| NG_012004.1:g.48728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3848+88C>T MANE Select | ENSP00000263923.4:n.3848+88C>T | |
| ENST00000647068.1:n.3861+88C>T | ||
| ENST00000263923.4:c.3848+88C>T | ENSP00000263923.4:n.3848+88C>T | |
| NM_002253.2:c.3848+88C>T | NP_002244.1:n.3848+88C>T | |
| NM_002253.3:c.3848+88C>T | NP_002244.1:n.3848+88C>T | |
| NM_002253.4:c.3848+88C>T MANE Select | NP_002244.1:n.3848+88C>T |