Linked Data
ClinVar Variation Id:
1711721
ClinVar RCV Id:
RCV002293235
dbSNP Id:
rs1308128585
gnomAD v2:
X-136649077-C-T
gnomAD v3:
X-137566918-C-T
gnomAD v4:
X-137566918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566918C>T , CM000685.2:g.137566918C>T | GRCh38 |
| NC_000023.10:g.136649077C>T , CM000685.1:g.136649077C>T | GRCh37 |
| NC_000023.9:g.136476743C>T | NCBI36 |
| NG_008115.1:g.5732C>T | |
| NG_008115.2:g.5792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.227C>T MANE Select | ENSP00000287538.5:p.Pro76Leu | |
| ENST00000287538.9:c.227C>T | ENSP00000287538.5:p.Pro76Leu | |
| ENST00000370606.3:c.227C>T | ENSP00000359638.3:p.Pro76Leu | |
| NM_003413.3:c.227C>T | NP_003404.1:p.Pro76Leu | |
| NM_001330661.1:c.227C>T | NP_001317590.1:p.Pro76Leu | |
| NM_003413.4:c.227C>T MANE Select | NP_003404.1:p.Pro76Leu |