Linked Data
ClinVar Variation Id:
18068
ClinVar RCV Id:
RCV000019691
RCV000019692
RCV000019693
RCV000242838
RCV000405686
RCV000835695
RCV002259306
dbSNP Id:
rs699
ExAC:
1:230845794 A / G
gnomAD v2:
1-230845794-A-G
gnomAD v3:
1-230710048-A-G
gnomAD v4:
1-230710048-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710048A>G , CM000663.2:g.230710048A>G | GRCh38 |
| NC_000001.10:g.230845794A>G , CM000663.1:g.230845794A>G | GRCh37 |
| NC_000001.9:g.228912417A>G | NCBI36 |
| NG_008836.1:g.9543T>C | |
| NG_008836.2:g.9543T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.776T>C MANE Select | ENSP00000355627.5:p.Met259Thr | |
| ENST00000679684.1:c.776T>C | ENSP00000505981.1:p.Met259Thr | |
| ENST00000679738.1:c.776T>C | ENSP00000505063.1:p.Met259Thr | |
| ENST00000679802.1:c.776T>C | ENSP00000505184.1:p.Met259Thr | |
| ENST00000679854.1:n.1287T>C | ||
| ENST00000679957.1:c.776T>C | ENSP00000506646.1:p.Met259Thr | |
| ENST00000680041.1:c.776T>C | ENSP00000504866.1:p.Met259Thr | |
| ENST00000680783.1:c.776T>C | ENSP00000506329.1:p.Met259Thr | |
| ENST00000681269.1:c.776T>C | ENSP00000505985.1:p.Met259Thr | |
| ENST00000681347.1:n.1287T>C | ||
| ENST00000681514.1:c.776T>C | ENSP00000505963.1:p.Met259Thr | |
| ENST00000681772.1:c.776T>C | ENSP00000505829.1:p.Met259Thr | |
| ENST00000366667.4:c.803T>C | ENSP00000355627.4:p.Met268Thr | |
| NM_000029.3:c.803T>C | NP_000020.1:p.Met268Thr | |
| NM_000029.4:c.803T>C | NP_000020.1:p.Met268Thr | |
| NM_001382817.3:c.776T>C | NP_001369746.2:p.Met259Thr | |
| NM_001384479.1:c.776T>C MANE Select | NP_001371408.1:p.Met259Thr |