Linked Data
dbSNP Id:
rs752153552
ExAC:
4:40356512 T / C
gnomAD v2:
4-40356512-T-C
gnomAD v3:
4-40354495-T-C
gnomAD v4:
4-40354495-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354495T>C , CM000666.2:g.40354495T>C | GRCh38 |
| NC_000004.11:g.40356512T>C , CM000666.1:g.40356512T>C | GRCh37 |
| NC_000004.10:g.40051269T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1415T>C MANE Select | ENSP00000312663.2:p.Ile472Thr | |
| ENST00000310169.2:c.1415T>C | ENSP00000312663.2:p.Ile472Thr | |
| NM_017581.3:c.1415T>C | NP_060051.2:p.Ile472Thr | |
| NM_017581.4:c.1415T>C MANE Select | NP_060051.2:p.Ile472Thr |