Linked Data
dbSNP Id:
rs10830123
gnomAD v2:
10-129349650-G-C
gnomAD v3:
10-127551386-G-C
gnomAD v4:
10-127551386-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.127551386G>C , CM000672.2:g.127551386G>C | GRCh38 |
| NC_000010.10:g.129349650G>C , CM000672.1:g.129349650G>C | GRCh37 |
| NC_000010.9:g.129239640G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398023.3:c.91-1074G>C MANE Select | ENSP00000381105.2:n.91-1074G>C | |
| ENST00000398023.2:c.91-1074G>C | ENSP00000381105.1:n.91-1074G>C | |
| NM_001030013.1:c.91-1074G>C | NP_001025184.1:n.91-1074G>C | |
| NM_001030013.2:c.91-1074G>C MANE Select | NP_001025184.1:n.91-1074G>C |