Linked Data
ClinVar Variation Id:
2660644
ClinVar RCV Id:
RCV003430488
dbSNP Id:
rs145289749
gnomAD v2:
X-54011600-G-A
gnomAD v4:
X-53985167-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53985167G>A , CM000685.2:g.53985167G>A | GRCh38 |
| NC_000023.10:g.54011600G>A , CM000685.1:g.54011600G>A | GRCh37 |
| NC_000023.9:g.54028325G>A | NCBI36 |
| NG_021309.1:g.64970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.1887C>T | ENSP00000340051.7:p.Asn629= | |
| ENST00000396282.7:c.2190C>T | ENSP00000379578.3:p.Asn730= | |
| ENST00000686349.1:c.*645C>T | ENSP00000510424.1:n.*645C>T | |
| ENST00000687764.1:c.*1632C>T | ENSP00000509967.1:n.*1632C>T | |
| ENST00000691629.1:n.1554C>T | ||
| ENST00000338154.11:c.2190C>T MANE Select | ENSP00000338868.6:p.Asn730= | |
| ENST00000322659.12:c.2139C>T | ENSP00000319473.8:p.Asn713= | |
| ENST00000338154.10:c.2190C>T | ENSP00000338868.6:p.Asn730= | |
| ENST00000338946.10:c.1887C>T | ENSP00000340051.6:p.Asn629= | |
| ENST00000357988.9:c.2298C>T | ENSP00000350676.5:p.Asn766= | |
| ENST00000396282.6:c.1901C>T | ||
| ENST00000443302.5:c.1480C>T | ||
| ENST00000615775.4:c.617C>T | ENSP00000482159.1:p.Thr206Ile | |
| NM_001184896.1:c.2298C>T | NP_001171825.1:p.Asn766= | |
| NM_001184897.1:c.1887C>T | NP_001171826.1:p.Asn629= | |
| NM_001184898.1:c.2139C>T | NP_001171827.1:p.Asn713= | |
| NM_015107.2:c.2190C>T | NP_055922.1:p.Asn730= | |
| XM_005261996.1:c.2298C>T | XP_005262053.1:p.Asn766= | |
| XM_005261997.2:c.2190C>T | XP_005262054.1:p.Asn730= | |
| XM_005261999.1:c.2190C>T | XP_005262056.1:p.Asn730= | |
| XM_005262000.1:c.1995C>T | XP_005262057.1:p.Asn665= | |
| XM_006724585.1:c.2298C>T | XP_006724648.1:p.Asn766= | |
| XM_011530778.1:c.2298C>T | XP_011529080.1:p.Asn766= | |
| XM_005261997.4:c.2190C>T | XP_005262054.1:p.Asn730= | |
| XM_017029361.2:c.2190C>T | XP_016884850.1:p.Asn730= | |
| XM_017029362.2:c.2190C>T | XP_016884851.1:p.Asn730= | |
| NM_001184898.2:c.2139C>T | NP_001171827.1:p.Asn713= | |
| NM_015107.3:c.2190C>T MANE Select | NP_055922.1:p.Asn730= | |
| NM_001184897.2:c.1887C>T | NP_001171826.1:p.Asn629= |