Linked Data
dbSNP Id:
rs756080646
ExAC:
2:103149111 T / C
gnomAD v2:
2-103149111-T-C
gnomAD v4:
2-102532652-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532652T>C , CM000664.2:g.102532652T>C | GRCh38 |
| NC_000002.11:g.103149111T>C , CM000664.1:g.103149111T>C | GRCh37 |
| NC_000002.10:g.102515543T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295269.5:c.2361T>C MANE Select | ENSP00000295269.4:p.His787= | |
| ENST00000295269.4:c.2361T>C | ENSP00000295269.4:p.His787= | |
| NM_001011552.3:c.2361T>C | NP_001011552.2:p.His787= | |
| XM_011511158.1:c.2274T>C | XP_011509460.1:p.His758= | |
| NM_001011552.4:c.2361T>C MANE Select | NP_001011552.2:p.His787= |