Linked Data
ClinVar Variation Id:
451373
ClinVar RCV Id:
RCV000522617
dbSNP Id:
rs1301142454
gnomAD v2:
13-110802724-T-C
gnomAD v4:
13-110150377-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110150377T>C , CM000675.2:g.110150377T>C | GRCh38 |
| NC_000013.10:g.110802724T>C , CM000675.1:g.110802724T>C | GRCh37 |
| NC_000013.9:g.109600725T>C | NCBI36 |
| NG_011544.2:g.161773A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.4996A>G MANE Select | ENSP00000364979.4:p.Met1666Val | |
| ENST00000649720.1:n.1164A>G | ||
| ENST00000650424.1:c.1146A>G | ||
| ENST00000375820.8:c.4996A>G | ENSP00000364979.4:p.Met1666Val | |
| NM_001845.5:c.4996A>G | NP_001836.3:p.Met1666Val | |
| XM_011521048.1:c.4804A>G | XP_011519350.1:p.Met1602Val | |
| XM_011521048.2:c.4804A>G | XP_011519350.1:p.Met1602Val | |
| NM_001845.6:c.4996A>G MANE Select | NP_001836.3:p.Met1666Val |