Linked Data
ClinVar Variation Id:
97694
ClinVar RCV Id:
RCV000083947
dbSNP Id:
rs104895276
gnomAD v3:
12-6333478-G-A
gnomAD v4:
12-6333478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333478G>A , CM000674.2:g.6333478G>A | GRCh38 |
| NC_000012.11:g.6442644G>A , CM000674.1:g.6442644G>A | GRCh37 |
| NC_000012.10:g.6312905G>A | NCBI36 |
| NG_007506.1:g.13618C>T , LRG_193:g.13618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.395C>T | ||
| ENST00000437813.8:c.361C>T | ENSP00000513672.1:p.Arg121Trp | |
| ENST00000440083.7:c.361C>T | ENSP00000413224.3:p.Arg121Trp | |
| ENST00000535958.2:c.*188C>T | ENSP00000513673.1:n.*188C>T | |
| ENST00000698339.1:c.361C>T | ENSP00000513670.1:p.Arg121Trp | |
| ENST00000698340.1:c.361C>T | ENSP00000513671.1:p.Arg121Trp | |
| ENST00000162749.7:c.361C>T MANE Select | ENSP00000162749.2:p.Arg121Trp | |
| ENST00000162749.6:c.361C>T | ENSP00000162749.2:p.Arg121Trp | |
| ENST00000366159.8:c.361C>T | ENSP00000380389.3:p.Arg121Trp | |
| ENST00000437813.7:n.322C>T | ||
| ENST00000440083.6:c.361C>T | ENSP00000413224.2:p.Arg121Trp | |
| ENST00000534885.5:c.207C>T | ENSP00000441803.1:p.Thr69= | |
| ENST00000536194.1:c.334C>T | ENSP00000442919.1:p.Arg112Trp | |
| ENST00000539372.5:c.361C>T | ENSP00000442059.1:p.Arg121Trp | |
| ENST00000540022.5:c.232C>T | ENSP00000438343.1:p.Arg78Trp | |
| ENST00000543048.5:c.215-27C>T | ENSP00000439981.1:n.215-27C>T | |
| ENST00000543995.5:c.194-27C>T | ENSP00000442405.1:n.194-27C>T | |
| NM_001065.3:c.361C>T , LRG_193t1:c.361C>T | NP_001056.1:p.Arg121Trp | |
| NM_001346091.1:c.37C>T | NP_001333020.1:p.Arg13Trp | |
| NM_001346092.1:c.-217C>T | NP_001333021.1:n.-217C>T | |
| NR_144351.1:n.664C>T | ||
| NM_001065.4:c.361C>T MANE Select | NP_001056.1:p.Arg121Trp | |
| NM_001346091.2:c.37C>T | NP_001333020.1:p.Arg13Trp | |
| NM_001346092.2:c.-217C>T | NP_001333021.1:n.-217C>T | |
| NR_144351.2:n.623C>T |