Linked Data
ClinVar Variation Id:
139102
dbSNP Id:
rs6871030
ExAC:
5:148386525 T / C
gnomAD v2:
5-148386525-T-C
gnomAD v3:
5-149006962-T-C
gnomAD v4:
5-149006962-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149006962T>C , CM000667.2:g.149006962T>C | GRCh38 |
| NC_000005.9:g.148386525T>C , CM000667.1:g.148386525T>C | GRCh37 |
| NC_000005.8:g.148366718T>C | NCBI36 |
| NG_007947.2:g.61213A>G , LRG_269:g.61213A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.4447A>G | ||
| ENST00000515425.6:c.3594A>G MANE Select | ENSP00000423660.1:p.Pro1198= | |
| ENST00000675793.1:c.*4651A>G | ENSP00000502039.1:n.*4651A>G | |
| ENST00000323829.9:c.*2982A>G | ENSP00000313025.5:n.*2982A>G | |
| ENST00000502274.1:c.180A>G | ENSP00000421092.1:p.Pro60= | |
| ENST00000504517.5:c.3116A>G | ENSP00000421779.1:n.3116A>G | |
| ENST00000504690.5:c.3594A>G | ENSP00000425627.1:p.Pro1198= | |
| ENST00000510350.1:n.150A>G | ||
| ENST00000510779.1:c.2644A>G | ||
| ENST00000512049.5:c.3573A>G | ENSP00000421860.1:p.Pro1191= | |
| ENST00000515229.5:n.256A>G | ||
| ENST00000515425.5:c.3594A>G | ENSP00000423660.1:p.Pro1198= | |
| NM_024577.3:c.3594A>G , LRG_269t1:c.3594A>G | NP_078853.2:p.Pro1198= | |
| NM_024577.4:c.3594A>G MANE Select | NP_078853.2:p.Pro1198= |