Linked Data
ClinVar Variation Id:
162194
ClinVar RCV Id:
RCV000149574
RCV000255598
RCV000550952
RCV000790277
RCV000995566
RCV001814070
RCV002390316
dbSNP Id:
rs372000714
ExAC:
11:68673588 T / A
gnomAD v2:
11-68673588-T-A
gnomAD v3:
11-68906120-T-A
gnomAD v4:
11-68906120-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68906120T>A , CM000673.2:g.68906120T>A | GRCh38 |
| NC_000011.9:g.68673588T>A , CM000673.1:g.68673588T>A | GRCh37 |
| NC_000011.8:g.68430164T>A | NCBI36 |
| NG_007976.1:g.7270T>A , LRG_250:g.7270T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.138T>A MANE Select | ENSP00000255078.4:p.Cys46Ter | |
| ENST00000539224.2:c.101T>A | ||
| ENST00000674583.1:c.101T>A | ||
| ENST00000674597.1:c.52T>A | ||
| ENST00000674729.1:n.81T>A | ||
| ENST00000674955.1:c.138T>A | ENSP00000502463.1:p.Cys46Ter | |
| ENST00000675142.1:n.101T>A | ||
| ENST00000675469.1:c.52T>A | ||
| ENST00000675615.1:c.138T>A | ENSP00000502413.1:p.Cys46Ter | |
| ENST00000675674.1:n.101T>A | ||
| ENST00000675800.1:n.83T>A | ||
| ENST00000675873.1:c.101T>A | ||
| ENST00000676173.1:n.178T>A | ||
| ENST00000676228.1:c.138T>A | ENSP00000502375.1:p.Cys46Ter | |
| ENST00000255078.7:c.138T>A | ENSP00000255078.3:p.Cys46Ter | |
| ENST00000539224.1:c.138T>A | ENSP00000440465.1:p.Cys46Ter | |
| ENST00000544541.1:c.87-2025T>A | ENSP00000443343.1:n.87-2025T>A | |
| ENST00000545146.1:c.138T>A | ENSP00000456366.1:p.Cys46Ter | |
| NM_002180.2:c.138T>A , LRG_250t1:c.138T>A | NP_002171.2:p.Cys46Ter | |
| XM_005273974.2:c.-878T>A | XP_005274031.1:n.-878T>A | |
| XM_005273976.1:c.138T>A | XP_005274033.1:p.Cys46Ter | |
| XR_247198.1:n.240T>A | ||
| XR_949903.1:n.240T>A | ||
| XM_005273976.2:c.138T>A | XP_005274033.1:p.Cys46Ter | |
| XM_017017669.2:c.-776T>A | XP_016873158.1:n.-776T>A | |
| XM_017017671.2:c.138T>A | XP_016873160.1:p.Cys46Ter | |
| XR_949903.3:n.236T>A | ||
| NM_002180.3:c.138T>A MANE Select | NP_002171.2:p.Cys46Ter |