Linked Data
dbSNP Id:
rs2147682321
gnomAD v4:
19-17834906-G-C
MyVariant Identifiers:
chr19:g.17945715G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834906G>C , CM000681.2:g.17834906G>C | GRCh38 |
| NC_000019.9:g.17945715G>C , CM000681.1:g.17945715G>C | GRCh37 |
| NC_000019.8:g.17806715G>C | NCBI36 |
| NG_007273.1:g.18086C>G , LRG_77:g.18086C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*702C>G | ENSP00000513006.1:n.*702C>G | |
| ENST00000696967.1:n.1322C>G | ||
| ENST00000696970.1:n.800C>G | ||
| ENST00000458235.7:c.2145C>G MANE Select | ENSP00000391676.1:p.Val715= | |
| ENST00000458235.5:c.2145C>G | ENSP00000391676.1:p.Val715= | |
| ENST00000527031.5:n.2278+1821C>G | ||
| ENST00000527670.5:c.2145C>G | ENSP00000432511.1:p.Val715= | |
| ENST00000534444.1:c.2145C>G | ENSP00000436421.1:p.Val715= | |
| NM_000215.3:c.2145C>G , LRG_77t1:c.2145C>G | NP_000206.2:p.Val715= | |
| XM_005259896.2:c.2274C>G | XP_005259953.1:p.Val758= | |
| XM_006722745.2:c.2145C>G | XP_006722808.1:p.Val715= | |
| XM_011527990.1:c.2274C>G | XP_011526292.1:p.Val758= | |
| XR_430137.2:n.2284C>G | ||
| XM_005259896.3:c.2274C>G | XP_005259953.1:p.Val758= | |
| NM_000215.4:c.2145C>G MANE Select | NP_000206.2:p.Val715= |