Linked Data
ClinVar Variation Id:
2164193
ClinVar RCV Id:
RCV003082038
dbSNP Id:
rs1371407636
gnomAD v2:
4-997363-G-C
gnomAD v4:
4-1003575-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003575G>C , CM000666.2:g.1003575G>C | GRCh38 |
| NC_000004.11:g.997363G>C , CM000666.1:g.997363G>C | GRCh37 |
| NC_000004.10:g.987363G>C | NCBI36 |
| NG_008103.1:g.21579G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1677G>C | ENSP00000247933.4:p.Leu559= | |
| ENST00000514224.2:c.1677G>C MANE Select | ENSP00000425081.2:p.Leu559= | |
| ENST00000652070.1:n.1733G>C | ||
| ENST00000247933.8:c.1677G>C | ENSP00000247933.4:p.Leu559= | |
| ENST00000514224.1:c.1281G>C | ENSP00000425081.1:p.Leu427= | |
| ENST00000514417.1:n.69G>C | ||
| ENST00000514698.5:n.1784G>C | ||
| NM_000203.4:c.1677G>C | NP_000194.2:p.Leu559= | |
| NR_110313.1:n.1765G>C | ||
| XM_006713882.2:c.1281G>C | XP_006713945.1:p.Leu427= | |
| XM_011513459.1:c.1743G>C | XP_011511761.1:p.Leu581= | |
| XM_011513460.1:c.1536G>C | XP_011511762.1:p.Leu512= | |
| XM_011513461.1:c.1470G>C | XP_011511763.1:p.Leu490= | |
| XM_011513462.1:c.1389G>C | XP_011511764.1:p.Leu463= | |
| XM_011513463.1:c.1389G>C | XP_011511765.1:p.Leu463= | |
| XR_924947.1:n.1933G>C | ||
| NM_000203.5:c.1677G>C MANE Select | NP_000194.2:p.Leu559= | |
| NM_001363576.1:c.1281G>C | NP_001350505.1:p.Leu427= | |
| XM_011513461.2:c.1470G>C | XP_011511763.1:p.Leu490= | |
| XM_017008163.1:c.717G>C | XP_016863652.1:p.Leu239= |