Linked Data
dbSNP Id:
rs114518130
gnomAD v2:
4-57913253-G-A
gnomAD v3:
4-57047087-G-A
gnomAD v4:
4-57047087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.57047087G>A , CM000666.2:g.57047087G>A | GRCh38 |
| NC_000004.11:g.57913253G>A , CM000666.1:g.57913253G>A | GRCh37 |
| NC_000004.10:g.57608010G>A | NCBI36 |
| NG_031877.1:g.68299C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295666.6:c.476-6154C>T MANE Select | ENSP00000295666.4:n.476-6154C>T | |
| ENST00000512512.3:n.116-6154C>T | ||
| ENST00000514062.2:c.476-6154C>T | ENSP00000486293.1:n.476-6154C>T | |
| NM_001253835.1:c.476-6154C>T | NP_001240764.1:n.476-6154C>T | |
| NM_001553.2:c.476-6154C>T | NP_001544.1:n.476-6154C>T | |
| NM_001553.3:c.476-6154C>T MANE Select | NP_001544.1:n.476-6154C>T | |
| NM_001253835.2:c.476-6154C>T | NP_001240764.1:n.476-6154C>T |