Linked Data
ClinVar Variation Id:
1598491
ClinVar RCV Id:
RCV002129572
dbSNP Id:
rs1000226677
gnomAD v2:
18-21148772-T-G
gnomAD v3:
18-23568808-T-G
gnomAD v4:
18-23568808-T-G
MyVariant Identifiers:
chr18:g.21148772T>G (hg19)
chr18:g.21148772_21148774delinsGAA (hg19)
chr18:g.23568808T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23568808T>G , CM000680.2:g.23568808T>G | GRCh38 |
| NC_000018.9:g.21148772T>G , CM000680.1:g.21148772T>G | GRCh37 |
| NC_000018.8:g.19402770T>G | NCBI36 |
| NG_012795.1:g.22810A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.463+15A>C MANE Select | ENSP00000269228.4:n.463+15A>C | |
| ENST00000269228.9:c.463+15A>C | ENSP00000269228.4:n.463+15A>C | |
| ENST00000540608.5:n.377+15A>C | ||
| NM_000271.4:c.463+15A>C | NP_000262.2:n.463+15A>C | |
| XM_005258277.1:c.463+15A>C | XP_005258334.1:n.463+15A>C | |
| XM_005258278.3:c.463+15A>C | XP_005258335.1:n.463+15A>C | |
| XM_005258279.1:c.463+15A>C | XP_005258336.1:n.463+15A>C | |
| XM_006722479.2:c.463+15A>C | XP_006722542.1:n.463+15A>C | |
| XM_011526015.1:c.-3+15A>C | XP_011524317.1:n.-3+15A>C | |
| XM_005258278.5:c.463+15A>C | XP_005258335.1:n.463+15A>C | |
| XM_005258279.2:c.463+15A>C | XP_005258336.1:n.463+15A>C | |
| XM_006722479.3:c.463+15A>C | XP_006722542.1:n.463+15A>C | |
| XM_017025784.1:c.463+15A>C | XP_016881273.1:n.463+15A>C | |
| XM_017025785.1:c.463+15A>C | XP_016881274.1:n.463+15A>C | |
| XM_017025786.1:c.463+15A>C | XP_016881275.1:n.463+15A>C | |
| XM_017025787.1:c.463+15A>C | XP_016881276.1:n.463+15A>C | |
| NM_000271.5:c.463+15A>C MANE Select | NP_000262.2:n.463+15A>C |