Linked Data
ClinVar Variation Id:
246592
ClinVar RCV Id:
RCV000728925
RCV001174028
RCV001689763
RCV002460063
RCV002519835
RCV003387818
RCV004529417
dbSNP Id:
rs139653980
ExAC:
5:148417859 T / C
gnomAD v2:
5-148417859-T-C
gnomAD v3:
5-149038296-T-C
gnomAD v4:
5-149038296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149038296T>C , CM000667.2:g.149038296T>C | GRCh38 |
| NC_000005.9:g.148417859T>C , CM000667.1:g.148417859T>C | GRCh37 |
| NC_000005.8:g.148398052T>C | NCBI36 |
| NG_007947.2:g.29879A>G , LRG_269:g.29879A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.890A>G | ||
| ENST00000515425.6:c.1000A>G MANE Select | ENSP00000423660.1:p.Met334Val | |
| ENST00000674655.1:c.262A>G | ENSP00000502840.1:p.Ile88Val | |
| ENST00000674983.1:c.*258A>G | ENSP00000502387.1:n.*258A>G | |
| ENST00000675793.1:c.1000A>G | ENSP00000502039.1:p.Ile334Val | |
| ENST00000676056.1:c.*258A>G | ENSP00000501827.1:n.*258A>G | |
| ENST00000323829.9:c.*258A>G | ENSP00000313025.5:n.*258A>G | |
| ENST00000503071.1:n.467A>G | ||
| ENST00000504517.5:c.400A>G | ENSP00000421779.1:p.Met134Val | |
| ENST00000504690.5:c.1000A>G | ENSP00000425627.1:p.Met334Val | |
| ENST00000511307.5:c.*780A>G | ENSP00000421420.1:n.*780A>G | |
| ENST00000512049.5:c.979A>G | ENSP00000421860.1:p.Met327Val | |
| ENST00000513604.5:c.*258A>G | ENSP00000423111.1:n.*258A>G | |
| ENST00000515425.5:c.1000A>G | ENSP00000423660.1:p.Met334Val | |
| NM_024577.3:c.1000A>G , LRG_269t1:c.1000A>G | NP_078853.2:p.Met334Val | |
| NM_024577.4:c.1000A>G MANE Select | NP_078853.2:p.Met334Val |