Linked Data
ClinVar Variation Id:
542250
ClinVar RCV Id:
RCV000652650
dbSNP Id:
rs149101001
ExAC:
2:128397000 G / T
gnomAD v2:
2-128397000-G-T
gnomAD v3:
2-127639425-G-T
gnomAD v4:
2-127639425-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127639425G>T , CM000664.2:g.127639425G>T | GRCh38 |
| NC_000002.11:g.128397000G>T , CM000664.1:g.128397000G>T | GRCh37 |
| NC_000002.10:g.128113470G>T | NCBI36 |
| NG_042235.1:g.47362C>A | |
| NG_052848.1:g.108737G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.882C>A MANE Select | ENSP00000347240.4:p.Asn294Lys | |
| ENST00000324938.9:c.954C>A | ENSP00000326888.5:p.Asn318Lys | |
| ENST00000355119.8:c.882C>A | ENSP00000347240.4:p.Asn294Lys | |
| ENST00000409254.1:c.426C>A | ENSP00000386907.1:p.Asn142Lys | |
| ENST00000409286.5:c.426C>A | ENSP00000386252.1:p.Asn142Lys | |
| ENST00000409455.5:c.867C>A | ENSP00000386383.1:p.Asn289Lys | |
| ENST00000409754.5:c.426C>A | ENSP00000386345.1:p.Asn142Lys | |
| ENST00000409808.6:c.867C>A | ENSP00000386637.2:p.Asn289Lys | |
| ENST00000410011.5:c.867C>A | ENSP00000387002.1:p.Asn289Lys | |
| ENST00000410038.5:c.426C>A | ENSP00000386570.1:p.Asn142Lys | |
| ENST00000413578.5:c.*92C>A | ENSP00000388611.1:n.*92C>A | |
| ENST00000426981.5:c.365C>A | ||
| ENST00000466410.5:n.1595C>A | ||
| ENST00000469300.6:n.3807C>A | ||
| ENST00000476932.5:n.1270C>A | ||
| ENST00000484252.5:n.1102C>A | ||
| ENST00000494613.5:n.138C>A | ||
| ENST00000545738.6:c.948C>A | ENSP00000443794.2:p.Asn316Lys | |
| ENST00000612860.4:c.606C>A | ENSP00000484949.1:p.Asn202Lys | |
| NM_001136037.2:c.948C>A | NP_001129509.2:p.Asn316Lys | |
| NM_001161403.1:c.882C>A | NP_001154875.1:p.Asn294Lys | |
| NM_001161404.1:c.867C>A | NP_001154876.1:p.Asn289Lys | |
| NM_001256542.1:c.426C>A | NP_001243471.1:p.Asn142Lys | |
| NM_017980.4:c.954C>A | NP_060450.2:p.Asn318Lys | |
| XM_005263709.2:c.867C>A | XP_005263766.1:p.Asn289Lys | |
| XM_005263710.2:c.675C>A | XP_005263767.1:p.Asn225Lys | |
| XM_006712627.2:c.534C>A | XP_006712690.1:p.Asn178Lys | |
| XM_011511453.1:c.831C>A | XP_011509755.1:p.Asn277Lys | |
| XR_922961.1:n.1046C>A | ||
| XM_006712627.4:c.534C>A | XP_006712690.1:p.Asn178Lys | |
| XM_017004469.1:c.573C>A | XP_016859958.1:p.Asn191Lys | |
| XM_024452983.1:c.867C>A | XP_024308751.1:p.Asn289Lys | |
| XM_024452984.1:c.867C>A | XP_024308752.1:p.Asn289Lys | |
| XM_024452985.1:c.426C>A | XP_024308753.1:p.Asn142Lys | |
| XM_024452986.1:c.426C>A | XP_024308754.1:p.Asn142Lys | |
| XR_922961.2:n.1046C>A | ||
| NM_001136037.3:c.948C>A | NP_001129509.2:p.Asn316Lys | |
| NM_001161403.2:c.882C>A | NP_001154875.1:p.Asn294Lys | |
| NM_001136037.4:c.948C>A | NP_001129509.2:p.Asn316Lys | |
| NM_001161403.3:c.882C>A MANE Select | NP_001154875.1:p.Asn294Lys | |
| NM_001161404.2:c.867C>A | NP_001154876.1:p.Asn289Lys | |
| NM_001256542.2:c.426C>A | NP_001243471.1:p.Asn142Lys | |
| NM_017980.5:c.954C>A | NP_060450.2:p.Asn318Lys |