Linked Data
ClinVar Variation Id:
94648
ClinVar RCV Id:
RCV000080638
RCV000242327
RCV000330350
RCV000757159
RCV002498416
RCV001719837
RCV001831855
dbSNP Id:
rs16990264
ExAC:
X:32383146 A / T
gnomAD v2:
X-32383146-A-T
gnomAD v3:
X-32365029-A-T
gnomAD v4:
X-32365029-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32365029A>T , CM000685.2:g.32365029A>T | GRCh38 |
| NC_000023.10:g.32383146A>T , CM000685.1:g.32383146A>T | GRCh37 |
| NC_000023.9:g.32293067A>T | NCBI36 |
| NG_012232.1:g.979581T>A , LRG_199:g.979581T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.5016T>A MANE Select | ENSP00000354923.3:p.Asn1672Lys | |
| ENST00000619831.5:c.984T>A | ENSP00000479270.2:p.Asn328Lys | |
| ENST00000357033.8:c.5016T>A | ENSP00000354923.3:p.Asn1672Lys | |
| ENST00000378677.6:c.5004T>A | ENSP00000367948.2:p.Asn1668Lys | |
| ENST00000420596.5:c.264T>A | ENSP00000399897.1:p.Asn88Lys | |
| ENST00000448370.5:c.94-319T>A | ENSP00000388559.1:n.94-319T>A | |
| ENST00000488902.5:n.336-147966T>A | ||
| ENST00000619831.4:c.5004T>A | ENSP00000479270.1:p.Asn1668Lys | |
| ENST00000620040.4:c.5016T>A | ENSP00000478150.1:p.Asn1672Lys | |
| NM_000109.3:c.4992T>A | NP_000100.2:p.Asn1664Lys | |
| NM_004006.2:c.5016T>A , LRG_199t1:c.5016T>A | NP_003997.1:p.Asn1672Lys | |
| NM_004009.3:c.5004T>A | NP_004000.1:p.Asn1668Lys | |
| NM_004010.3:c.4647T>A | NP_004001.1:p.Asn1549Lys | |
| NM_004011.3:c.993T>A | NP_004002.2:p.Asn331Lys | |
| NM_004012.3:c.984T>A | NP_004003.1:p.Asn328Lys | |
| XM_006724468.2:c.5016T>A | XP_006724531.1:p.Asn1672Lys | |
| XM_006724469.2:c.4992T>A | XP_006724532.1:p.Asn1664Lys | |
| XM_006724470.2:c.5016T>A | XP_006724533.1:p.Asn1672Lys | |
| XM_006724471.2:c.5016T>A | XP_006724534.1:p.Asn1672Lys | |
| XM_006724472.2:c.4887T>A | XP_006724535.1:p.Asn1629Lys | |
| XM_006724473.2:c.5016T>A | XP_006724536.1:p.Asn1672Lys | |
| XM_006724474.2:c.5016T>A | XP_006724537.1:p.Asn1672Lys | |
| XM_006724475.2:c.5016T>A | XP_006724538.1:p.Asn1672Lys | |
| XM_011545467.1:c.5016T>A | XP_011543769.1:p.Asn1672Lys | |
| XM_011545468.1:c.5016T>A | XP_011543770.1:p.Asn1672Lys | |
| XM_011545469.1:c.5016T>A | XP_011543771.1:p.Asn1672Lys | |
| XM_006724469.3:c.4992T>A | XP_006724532.1:p.Asn1664Lys | |
| XM_006724470.3:c.5016T>A | XP_006724533.1:p.Asn1672Lys | |
| XM_006724474.3:c.5016T>A | XP_006724537.1:p.Asn1672Lys | |
| XM_011545468.2:c.5016T>A | XP_011543770.1:p.Asn1672Lys | |
| XM_017029328.1:c.5016T>A | XP_016884817.1:p.Asn1672Lys | |
| XM_017029329.1:c.5016T>A | XP_016884818.1:p.Asn1672Lys | |
| XM_017029330.2:c.5016T>A | XP_016884819.1:p.Asn1672Lys | |
| NM_000109.4:c.4992T>A | NP_000100.3:p.Asn1664Lys | |
| NM_004006.3:c.5016T>A MANE Select | NP_003997.2:p.Asn1672Lys | |
| NM_004011.4:c.993T>A | NP_004002.3:p.Asn331Lys | |
| NM_004012.4:c.984T>A | NP_004003.2:p.Asn328Lys |