Linked Data
ClinVar Variation Id:
2266504
ClinVar RCV Id:
RCV004120717
dbSNP Id:
rs369610870
gnomAD v2:
10-105128003-C-T
gnomAD v3:
10-103368246-C-T
gnomAD v4:
10-103368246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103368246C>T , CM000672.2:g.103368246C>T | GRCh38 |
| NC_000010.10:g.105128003C>T , CM000672.1:g.105128003C>T | GRCh37 |
| NC_000010.9:g.105117993C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684872.1:c.257C>T | ENSP00000508463.1:p.Pro86Leu | |
| ENST00000687501.1:n.257C>T | ||
| ENST00000687830.1:n.266C>T | ||
| ENST00000690052.1:c.257C>T | ENSP00000510708.1:p.Pro86Leu | |
| ENST00000690667.1:n.257C>T | ||
| ENST00000692195.1:c.257C>T | ENSP00000510076.1:p.Pro86Leu | |
| ENST00000369839.4:c.257C>T MANE Select | ENSP00000358854.3:p.Pro86Leu | |
| ENST00000369839.3:c.257C>T | ENSP00000358854.3:p.Pro86Leu | |
| NM_006951.3:c.257C>T | NP_008882.2:p.Pro86Leu | |
| XM_011540108.1:c.257C>T | XP_011538410.1:p.Pro86Leu | |
| NM_006951.4:c.257C>T | NP_008882.2:p.Pro86Leu | |
| NM_139052.2:c.257C>T | NP_620640.1:p.Pro86Leu | |
| NM_006951.5:c.257C>T MANE Select | NP_008882.2:p.Pro86Leu | |
| NM_139052.3:c.257C>T | NP_620640.1:p.Pro86Leu |