Linked Data
ClinVar Variation Id:
2914919
ClinVar RCV Id:
RCV003753793
dbSNP Id:
rs889532997
gnomAD v2:
20-62038516-G-T
gnomAD v3:
20-63407163-G-T
gnomAD v4:
20-63407163-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407163G>T , CM000682.2:g.63407163G>T | GRCh38 |
| NC_000020.10:g.62038516G>T , CM000682.1:g.62038516G>T | GRCh37 |
| NC_000020.9:g.61508960G>T | NCBI36 |
| NG_009004.1:g.70478C>A | |
| NG_009004.2:g.70478C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2154C>A | ENSP00000516702.1:p.Asn718Lys | |
| ENST00000359125.7:c.2100C>A MANE Select | ENSP00000352035.2:p.Asn700Lys | |
| ENST00000637193.1:c.1497C>A | ENSP00000490734.1:p.Asn499Lys | |
| ENST00000344462.8:c.2007C>A | ENSP00000339611.4:p.Asn669Lys | |
| ENST00000357249.6:c.1668C>A | ENSP00000349789.3:p.Asn556Lys | |
| ENST00000359125.6:c.2100C>A | ENSP00000352035.2:p.Asn700Lys | |
| ENST00000360480.7:c.2016C>A | ENSP00000353668.3:p.Asn672Lys | |
| ENST00000370224.5:c.2124C>A | ENSP00000359244.2:p.Asn708Lys | |
| ENST00000625514.2:c.2088C>A | ENSP00000486040.1:p.Asn696Lys | |
| ENST00000626839.2:c.2046C>A | ENSP00000486706.1:p.Asn682Lys | |
| ENST00000629241.2:c.2016C>A | ENSP00000487142.1:p.Asn672Lys | |
| ENST00000629676.2:c.1679+6287C>A | ENSP00000486194.1:n.1679+6287C>A | |
| NM_004518.4:c.2016C>A | NP_004509.2:p.Asn672Lys | |
| NM_172106.1:c.2046C>A | NP_742104.1:p.Asn682Lys | |
| NM_172107.2:c.2100C>A | NP_742105.1:p.Asn700Lys | |
| NM_172108.3:c.2007C>A | NP_742106.1:p.Asn669Lys | |
| XM_006723787.1:c.2142C>A | XP_006723850.1:p.Asn714Lys | |
| XM_011528807.1:c.2208C>A | XP_011527109.1:p.Asn736Lys | |
| XM_011528808.1:c.2205C>A | XP_011527110.1:p.Asn735Lys | |
| XM_011528809.1:c.2178C>A | XP_011527111.1:p.Asn726Lys | |
| XM_011528810.1:c.2154C>A | XP_011527112.1:p.Asn718Lys | |
| XM_011528811.1:c.2124C>A | XP_011527113.1:p.Asn708Lys | |
| XM_011528812.1:c.2097C>A | XP_011527114.1:p.Asn699Lys | |
| XM_011528813.1:c.2082C>A | XP_011527115.1:p.Asn694Lys | |
| XM_011528814.1:c.1689C>A | XP_011527116.1:p.Asn563Lys | |
| NM_004518.5:c.2016C>A | NP_004509.2:p.Asn672Lys | |
| NM_172106.2:c.2046C>A | NP_742104.1:p.Asn682Lys | |
| NM_172107.3:c.2100C>A | NP_742105.1:p.Asn700Lys | |
| NM_172108.4:c.2007C>A | NP_742106.1:p.Asn669Lys | |
| XM_011528810.2:c.2154C>A | XP_011527112.1:p.Asn718Lys | |
| XM_011528811.2:c.2124C>A | XP_011527113.1:p.Asn708Lys | |
| XM_017027841.2:c.2151C>A | XP_016883330.1:p.Asn717Lys | |
| XM_017027842.2:c.2088C>A | XP_016883331.1:p.Asn696Lys | |
| XM_017027843.1:c.2085C>A | XP_016883332.1:p.Asn695Lys | |
| XM_017027844.2:c.2043C>A | XP_016883333.1:p.Asn681Lys | |
| XM_017027845.1:c.1116C>A | XP_016883334.1:p.Asn372Lys | |
| NM_004518.6:c.2016C>A | NP_004509.2:p.Asn672Lys | |
| NM_172106.3:c.2046C>A | NP_742104.1:p.Asn682Lys | |
| NM_172107.4:c.2100C>A MANE Select | NP_742105.1:p.Asn700Lys | |
| NM_172108.5:c.2007C>A | NP_742106.1:p.Asn669Lys | |
| NM_001382235.1:c.2154C>A | NP_001369164.1:p.Asn718Lys |