Linked Data
ClinVar Variation Id:
670994
ClinVar RCV Id:
RCV000830168
dbSNP Id:
rs1937
ExAC:
10:60145342 G / C
gnomAD v2:
10-60145342-G-C
gnomAD v3:
10-58385582-G-C
gnomAD v4:
10-58385582-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58385582G>C , CM000672.2:g.58385582G>C | GRCh38 |
| NC_000010.10:g.60145342G>C , CM000672.1:g.60145342G>C | GRCh37 |
| NC_000010.9:g.59815348G>C | NCBI36 |
| NG_053006.1:g.5440G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487519.6:c.35G>C MANE Select | ENSP00000420588.1:p.Ser12Thr | |
| ENST00000373895.7:c.35G>C | ENSP00000363002.3:p.Ser12Thr | |
| ENST00000373899.3:n.238G>C | ||
| ENST00000487519.5:c.35G>C | ENSP00000420588.1:p.Ser12Thr | |
| NM_001270782.1:c.35G>C | NP_001257711.1:p.Ser12Thr | |
| NM_003201.2:c.35G>C | NP_003192.1:p.Ser12Thr | |
| NR_073073.1:n.440G>C | ||
| XM_011540120.1:c.35G>C | XP_011538422.1:p.Ser12Thr | |
| XM_011540121.1:c.35G>C | XP_011538423.1:p.Ser12Thr | |
| XM_011540121.3:c.35G>C | XP_011538423.1:p.Ser12Thr | |
| NM_003201.3:c.35G>C MANE Select | NP_003192.1:p.Ser12Thr | |
| NM_001270782.2:c.35G>C | NP_001257711.1:p.Ser12Thr | |
| NR_073073.2:n.173G>C |