Linked Data
dbSNP Id:
rs137852510
gnomAD v2:
X-70328173-A-G
gnomAD v3:
X-71108323-A-G
gnomAD v4:
X-71108323-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71108323A>G , CM000685.2:g.71108323A>G | GRCh38 |
| NC_000023.10:g.70328173A>G , CM000685.1:g.70328173A>G | GRCh37 |
| NC_000023.9:g.70244898A>G | NCBI36 |
| NG_009088.1:g.8231T>C , LRG_150:g.8231T>C | |
| NG_021141.1:g.3466T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482750.6:c.781T>C | ENSP00000421262.2:p.Ter261Arg | |
| ENST00000696903.1:n.1181T>C | ||
| ENST00000374202.7:c.878T>C MANE Select | ENSP00000363318.3:p.Leu293Pro | |
| ENST00000642473.1:n.1242T>C | ||
| ENST00000644022.1:n.1144T>C | ||
| ENST00000644708.1:n.1187T>C | ||
| ENST00000644911.1:n.1284T>C | ||
| ENST00000645266.1:c.878T>C | ENSP00000493734.1:p.Leu293Pro | |
| ENST00000645518.1:c.878T>C | ENSP00000493986.1:p.Leu293Pro | |
| ENST00000646106.1:c.878T>C | ENSP00000496437.1:p.Leu293Pro | |
| ENST00000646505.1:c.878T>C | ENSP00000496673.1:p.Leu293Pro | |
| ENST00000647492.1:c.878T>C | ENSP00000495340.1:p.Leu293Pro | |
| ENST00000276110.6:n.1471T>C | ||
| ENST00000374188.7:c.65T>C | ENSP00000363303.3:p.Leu22Pro | |
| ENST00000374202.6:c.878T>C | ENSP00000363318.2:p.Leu293Pro | |
| ENST00000456850.6:c.308T>C | ENSP00000388967.2:p.Leu103Pro | |
| ENST00000482750.5:c.194T>C | ||
| ENST00000512747.3:n.1057T>C | ||
| NM_000206.2:c.878T>C , LRG_150t1:c.878T>C | NP_000197.1:p.Leu293Pro | |
| NM_000206.3:c.878T>C MANE Select | NP_000197.1:p.Leu293Pro |