Linked Data
dbSNP Id:
rs11573828
gnomAD v2:
8-119959813-C-T
gnomAD v3:
8-118947574-C-T
gnomAD v4:
8-118947574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118947574C>T , CM000670.2:g.118947574C>T | GRCh38 |
| NC_000008.10:g.119959813C>T , CM000670.1:g.119959813C>T | GRCh37 |
| NC_000008.9:g.120028994C>T | NCBI36 |
| NG_012202.1:g.9571G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297350.9:c.30+4218G>A MANE Select | ENSP00000297350.4:n.30+4218G>A | |
| ENST00000297350.8:c.30+4218G>A | ENSP00000297350.4:n.30+4218G>A | |
| ENST00000517352.1:c.30+4218G>A | ENSP00000427924.1:n.30+4218G>A | |
| NM_002546.3:c.30+4218G>A | NP_002537.3:n.30+4218G>A | |
| NM_002546.4:c.30+4218G>A MANE Select | NP_002537.3:n.30+4218G>A |