Linked Data
ClinVar Variation Id:
2084620
ClinVar RCV Id:
RCV003011231
dbSNP Id:
rs367868989
ExAC:
18:21485563 G / T
gnomAD v2:
18-21485563-G-T
gnomAD v3:
18-23905599-G-T
gnomAD v4:
18-23905599-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23905599G>T , CM000680.2:g.23905599G>T | GRCh38 |
| NC_000018.9:g.21485563G>T , CM000680.1:g.21485563G>T | GRCh37 |
| NC_000018.8:g.19739561G>T | NCBI36 |
| NG_007853.2:g.221002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1866G>T MANE Plus Clinical | ENSP00000269217.5:p.Lys622Asn | |
| ENST00000313654.14:c.6693G>T MANE Select | ENSP00000324532.8:p.Lys2231Asn | |
| ENST00000649721.1:c.3585G>T | ENSP00000497885.1:p.Lys1195Asn | |
| ENST00000269217.10:c.1866G>T | ENSP00000269217.5:p.Lys622Asn | |
| ENST00000313654.13:c.6693G>T | ENSP00000324532.8:p.Lys2231Asn | |
| ENST00000399516.7:c.6525G>T | ENSP00000382432.2:p.Lys2175Asn | |
| ENST00000586751.5:c.1471G>T | ||
| ENST00000587184.5:c.1698G>T | ENSP00000466557.1:p.Lys566Asn | |
| ENST00000588770.5:n.1271G>T | ||
| NM_000227.4:c.1866G>T | NP_000218.3:p.Lys622Asn | |
| NM_001127717.2:c.6525G>T | NP_001121189.2:p.Lys2175Asn | |
| NM_001127718.2:c.1698G>T | NP_001121190.2:p.Lys566Asn | |
| NM_198129.2:c.6693G>T | NP_937762.2:p.Lys2231Asn | |
| XM_011525978.1:c.6720G>T | XP_011524280.1:p.Lys2240Asn | |
| XM_011525979.1:c.6711G>T | XP_011524281.1:p.Lys2237Asn | |
| XM_011525980.1:c.6702G>T | XP_011524282.1:p.Lys2234Asn | |
| XM_011525981.1:c.6588G>T | XP_011524283.1:p.Lys2196Asn | |
| XM_011525982.1:c.6720G>T | XP_011524284.1:p.Lys2240Asn | |
| XM_011525978.2:c.6720G>T | XP_011524280.1:p.Lys2240Asn | |
| XM_011525979.2:c.6711G>T | XP_011524281.1:p.Lys2237Asn | |
| XM_011525980.2:c.6702G>T | XP_011524282.1:p.Lys2234Asn | |
| XM_011525981.2:c.6588G>T | XP_011524283.1:p.Lys2196Asn | |
| XM_011525982.2:c.6720G>T | XP_011524284.1:p.Lys2240Asn | |
| XM_017025743.1:c.4572G>T | XP_016881232.1:p.Lys1524Asn | |
| XM_017025744.1:c.2262G>T | XP_016881233.1:p.Lys754Asn | |
| XR_001753199.1:n.6961G>T | ||
| NM_000227.5:c.1866G>T | NP_000218.3:p.Lys622Asn | |
| NM_001127717.3:c.6525G>T | NP_001121189.2:p.Lys2175Asn | |
| NM_001127718.3:c.1698G>T | NP_001121190.2:p.Lys566Asn | |
| NM_198129.3:c.6693G>T | NP_937762.2:p.Lys2231Asn | |
| NM_000227.6:c.1866G>T MANE Plus Clinical | NP_000218.3:p.Lys622Asn | |
| NM_001127717.4:c.6525G>T | NP_001121189.2:p.Lys2175Asn | |
| NM_001127718.4:c.1698G>T | NP_001121190.2:p.Lys566Asn | |
| NM_198129.4:c.6693G>T MANE Select | NP_937762.2:p.Lys2231Asn |