Linked Data
ClinVar Variation Id:
216696
dbSNP Id:
rs863224772
gnomAD v2:
14-51057676-T-G
gnomAD v3:
14-50590958-T-G
gnomAD v4:
14-50590958-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50590958T>G , CM000676.2:g.50590958T>G | GRCh38 |
| NC_000014.8:g.51057676T>G , CM000676.1:g.51057676T>G | GRCh37 |
| NC_000014.7:g.50127426T>G | NCBI36 |
| NG_009028.1:g.62877T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.300T>G | ENSP00000450989.2:p.Val100= | |
| ENST00000553746.2:n.2258T>G | ||
| ENST00000556478.3:c.300T>G | ENSP00000501428.2:p.Val100= | |
| ENST00000682037.1:c.300T>G | ENSP00000508289.1:p.Val100= | |
| ENST00000682219.1:n.1179T>G | ||
| ENST00000682226.1:n.634T>G | ||
| ENST00000682487.1:n.634T>G | ||
| ENST00000683330.1:n.634T>G | ||
| ENST00000683703.1:n.634T>G | ||
| ENST00000683837.1:n.634T>G | ||
| ENST00000684737.1:n.634T>G | ||
| ENST00000358385.12:c.300T>G MANE Select | ENSP00000351155.7:p.Val100= | |
| ENST00000674288.1:c.*1592T>G | ENSP00000501522.1:n.*1592T>G | |
| ENST00000674478.1:n.634T>G | ||
| ENST00000358385.10:c.300T>G | ENSP00000351155.6:p.Val100= | |
| ENST00000441560.6:c.300T>G | ENSP00000413675.2:p.Val100= | |
| ENST00000554886.1:c.-133T>G | ENSP00000452074.1:n.-133T>G | |
| ENST00000557735.1:c.51T>G | ENSP00000451015.1:p.Val17= | |
| NM_001127713.1:c.300T>G | NP_001121185.1:p.Val100= | |
| NM_015915.4:c.300T>G | NP_056999.2:p.Val100= | |
| NM_181598.3:c.300T>G | NP_853629.2:p.Val100= | |
| NM_015915.5:c.300T>G MANE Select | NP_056999.2:p.Val100= | |
| NM_181598.4:c.300T>G | NP_853629.2:p.Val100= |