Linked Data
dbSNP Id:
rs1360971912
gnomAD v2:
10-115805046-G-C
gnomAD v3:
10-114045287-G-C
gnomAD v4:
10-114045287-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045287G>C , CM000672.2:g.114045287G>C | GRCh38 |
| NC_000010.10:g.115805046G>C , CM000672.1:g.115805046G>C | GRCh37 |
| NC_000010.9:g.115795036G>C | NCBI36 |
| NG_012187.1:g.6241G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1155G>C MANE Select | ENSP00000358301.2:p.Lys385Asn | |
| ENST00000369295.3:c.1155G>C | ENSP00000358301.2:p.Lys385Asn | |
| NM_000684.2:c.1155G>C | NP_000675.1:p.Lys385Asn | |
| NM_000684.3:c.1155G>C MANE Select | NP_000675.1:p.Lys385Asn |