Linked Data
ClinVar Variation Id:
2919030
ClinVar RCV Id:
RCV003739241
dbSNP Id:
rs763784750
ExAC:
18:21529905 T / C
gnomAD v2:
18-21529905-T-C
gnomAD v3:
18-23949941-T-C
gnomAD v4:
18-23949941-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23949941T>C , CM000680.2:g.23949941T>C | GRCh38 |
| NC_000018.9:g.21529905T>C , CM000680.1:g.21529905T>C | GRCh37 |
| NC_000018.8:g.19783903T>C | NCBI36 |
| NG_007853.2:g.265344T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.4684+17T>C MANE Plus Clinical | ENSP00000269217.5:n.4684+17T>C | |
| ENST00000313654.14:c.9511+17T>C MANE Select | ENSP00000324532.8:n.9511+17T>C | |
| ENST00000649721.1:c.6106+17T>C | ENSP00000497885.1:n.6106+17T>C | |
| ENST00000269217.10:c.4684+17T>C | ENSP00000269217.5:n.4684+17T>C | |
| ENST00000313654.13:c.9511+17T>C | ENSP00000324532.8:n.9511+17T>C | |
| ENST00000399516.7:c.9343+17T>C | ENSP00000382432.2:n.9343+17T>C | |
| ENST00000587184.5:c.4516+17T>C | ENSP00000466557.1:n.4516+17T>C | |
| ENST00000588004.1:c.32+17T>C | ||
| ENST00000588770.5:n.4089+17T>C | ||
| NM_000227.4:c.4684+17T>C | NP_000218.3:n.4684+17T>C | |
| NM_001127717.2:c.9343+17T>C | NP_001121189.2:n.9343+17T>C | |
| NM_001127718.2:c.4516+17T>C | NP_001121190.2:n.4516+17T>C | |
| NM_198129.2:c.9511+17T>C | NP_937762.2:n.9511+17T>C | |
| XM_011525978.1:c.9538+17T>C | XP_011524280.1:n.9538+17T>C | |
| XM_011525979.1:c.9529+17T>C | XP_011524281.1:n.9529+17T>C | |
| XM_011525980.1:c.9520+17T>C | XP_011524282.1:n.9520+17T>C | |
| XM_011525981.1:c.9406+17T>C | XP_011524283.1:n.9406+17T>C | |
| XM_011525982.1:c.9241+17T>C | XP_011524284.1:n.9241+17T>C | |
| XM_011525978.2:c.9538+17T>C | XP_011524280.1:n.9538+17T>C | |
| XM_011525979.2:c.9529+17T>C | XP_011524281.1:n.9529+17T>C | |
| XM_011525980.2:c.9520+17T>C | XP_011524282.1:n.9520+17T>C | |
| XM_011525981.2:c.9406+17T>C | XP_011524283.1:n.9406+17T>C | |
| XM_011525982.2:c.9241+17T>C | XP_011524284.1:n.9241+17T>C | |
| XM_017025743.1:c.7390+17T>C | XP_016881232.1:n.7390+17T>C | |
| XM_017025744.1:c.5080+17T>C | XP_016881233.1:n.5080+17T>C | |
| XR_001753199.1:n.9779+17T>C | ||
| NM_000227.5:c.4684+17T>C | NP_000218.3:n.4684+17T>C | |
| NM_001127717.3:c.9343+17T>C | NP_001121189.2:n.9343+17T>C | |
| NM_001127718.3:c.4516+17T>C | NP_001121190.2:n.4516+17T>C | |
| NM_198129.3:c.9511+17T>C | NP_937762.2:n.9511+17T>C | |
| NM_000227.6:c.4684+17T>C MANE Plus Clinical | NP_000218.3:n.4684+17T>C | |
| NM_001127717.4:c.9343+17T>C | NP_001121189.2:n.9343+17T>C | |
| NM_001127718.4:c.4516+17T>C | NP_001121190.2:n.4516+17T>C | |
| NM_198129.4:c.9511+17T>C MANE Select | NP_937762.2:n.9511+17T>C |