Linked Data
ClinVar Variation Id:
12721
ClinVar RCV Id:
RCV000013558
dbSNP Id:
rs1800462
ExAC:
6:18143955 C / G
gnomAD v2:
6-18143955-C-G
gnomAD v3:
6-18143724-C-G
gnomAD v4:
6-18143724-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18143724C>G , CM000668.2:g.18143724C>G | GRCh38 |
| NC_000006.11:g.18143955C>G , CM000668.1:g.18143955C>G | GRCh37 |
| NC_000006.10:g.18251934C>G | NCBI36 |
| NG_012137.2:g.16420G>C | |
| NG_012137.3:g.16420G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.238G>C MANE Select | ENSP00000312304.4:p.Ala80Pro | |
| ENST00000309983.4:c.238G>C | ENSP00000312304.4:p.Ala80Pro | |
| NM_000367.3:c.238G>C | NP_000358.1:p.Ala80Pro | |
| XM_011514839.1:c.238G>C | XP_011513141.1:p.Ala80Pro | |
| XM_011514840.1:c.169G>C | XP_011513142.1:p.Ala57Pro | |
| NM_000367.4:c.238G>C | NP_000358.1:p.Ala80Pro | |
| NM_001346817.1:c.238G>C | NP_001333746.1:p.Ala80Pro | |
| NM_001346818.1:c.238G>C | NP_001333747.1:p.Ala80Pro | |
| NM_000367.5:c.238G>C MANE Select | NP_000358.1:p.Ala80Pro |