Linked Data
ClinVar Variation Id:
1144694
ClinVar RCV Id:
RCV001483255
dbSNP Id:
rs782041815
ExAC:
X:48547383 C / T
gnomAD v2:
X-48547383-C-T
gnomAD v3:
X-48688994-C-T
gnomAD v4:
X-48688994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688994C>T , CM000685.2:g.48688994C>T | GRCh38 |
| NC_000023.10:g.48547383C>T , CM000685.1:g.48547383C>T | GRCh37 |
| NC_000023.9:g.48432327C>T | NCBI36 |
| NG_007877.1:g.10198C>T , LRG_125:g.10198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.510C>T | ||
| ENST00000698625.1:c.1266C>T | ENSP00000513844.1:p.Ala422= | |
| ENST00000698626.1:c.1266C>T | ENSP00000513845.1:p.Ala422= | |
| ENST00000698635.1:c.1266C>T | ENSP00000513850.1:p.Ala422= | |
| ENST00000376701.5:c.1266C>T MANE Select | ENSP00000365891.4:p.Ala422= | |
| ENST00000376701.4:c.1266C>T | ENSP00000365891.4:p.Ala422= | |
| ENST00000474174.1:n.510C>T | ||
| NM_000377.2:c.1266C>T , LRG_125t1:c.1266C>T | NP_000368.1:p.Ala422= | |
| XM_011543977.1:c.1110C>T | XP_011542279.1:p.Ala370= | |
| XM_011543977.2:c.1110C>T | XP_011542279.1:p.Ala370= | |
| XM_017029786.1:c.1266C>T | XP_016885275.1:p.Ala422= | |
| NM_000377.3:c.1266C>T MANE Select | NP_000368.1:p.Ala422= |