Linked Data
ClinVar Variation Id:
2168725
ClinVar RCV Id:
RCV003082711
dbSNP Id:
rs1259891264
gnomAD v2:
2-170115631-T-C
gnomAD v4:
2-169259121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259121T>C , CM000664.2:g.169259121T>C | GRCh38 |
| NC_000002.11:g.170115631T>C , CM000664.1:g.170115631T>C | GRCh37 |
| NC_000002.10:g.169823877T>C | NCBI36 |
| NG_012634.1:g.108492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2417A>G MANE Select | ENSP00000496870.1:p.Lys806Arg | |
| ENST00000263816.7:c.2417A>G | ENSP00000263816.3:p.Lys806Arg | |
| ENST00000443831.1:c.2006A>G | ENSP00000409813.1:p.Lys669Arg | |
| NM_004525.2:c.2417A>G | NP_004516.2:p.Lys806Arg | |
| XM_011511183.1:c.2417A>G | XP_011509485.1:p.Lys806Arg | |
| XM_011511184.1:c.128A>G | XP_011509486.1:p.Lys43Arg | |
| XM_011511185.1:c.2417A>G | XP_011509487.1:p.Lys806Arg | |
| NM_004525.3:c.2417A>G MANE Select | NP_004516.2:p.Lys806Arg | |
| XM_011511183.3:c.2417A>G | XP_011509485.1:p.Lys806Arg | |
| XM_011511184.2:c.128A>G | XP_011509486.1:p.Lys43Arg |