Linked Data
ClinVar Variation Id:
30222
ClinVar RCV Id:
RCV000023145
dbSNP Id:
rs387906823
ExAC:
5:38925351 A / C
gnomAD v2:
5-38925351-A-C
gnomAD v3:
5-38925249-A-C
gnomAD v4:
5-38925249-A-C
PubMed:
PMID:19690585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38925249A>C , CM000667.2:g.38925249A>C | GRCh38 |
| NC_000005.9:g.38925351A>C , CM000667.1:g.38925351A>C | GRCh37 |
| NC_000005.8:g.38961108A>C | NCBI36 |
| NG_016236.1:g.84392A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274276.8:c.2090A>C MANE Select | ENSP00000274276.3:p.Lys697Thr | |
| ENST00000274276.7:c.2090A>C | ENSP00000274276.3:p.Lys697Thr | |
| NM_003999.2:c.2090A>C | NP_003990.1:p.Lys697Thr | |
| XM_005248384.1:c.2093A>C | XP_005248441.1:p.Lys698Thr | |
| XM_005248385.1:c.2093A>C | XP_005248442.1:p.Lys698Thr | |
| XM_011514161.1:c.2093A>C | XP_011512463.1:p.Lys698Thr | |
| XR_925661.1:n.2482A>C | ||
| NM_001323505.1:c.2090A>C | NP_001310434.1:p.Lys697Thr | |
| NM_001323506.1:c.2093A>C | NP_001310435.1:p.Lys698Thr | |
| XM_011514161.2:c.2093A>C | XP_011512463.1:p.Lys698Thr | |
| XM_017010019.1:c.2090A>C | XP_016865508.1:p.Lys697Thr | |
| NM_003999.3:c.2090A>C MANE Select | NP_003990.1:p.Lys697Thr | |
| NM_001323505.2:c.2090A>C | NP_001310434.1:p.Lys697Thr | |
| NM_001323506.2:c.2093A>C | NP_001310435.1:p.Lys698Thr |