Linked Data
dbSNP Id:
rs1473011869
gnomAD v2:
11-48145401-T-C
gnomAD v3:
11-48123849-T-C
gnomAD v4:
11-48123849-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48123849T>C , CM000673.2:g.48123849T>C | GRCh38 |
| NC_000011.9:g.48145401T>C , CM000673.1:g.48145401T>C | GRCh37 |
| NC_000011.8:g.48101977T>C | NCBI36 |
| NG_012209.1:g.148292T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1195T>C | ENSP00000514003.1:p.Leu399= | |
| ENST00000418331.7:c.853T>C MANE Select | ENSP00000400010.2:p.Leu285= | |
| ENST00000418331.6:c.853T>C | ENSP00000400010.2:p.Leu285= | |
| ENST00000440289.6:c.853T>C | ENSP00000409733.2:p.Leu285= | |
| ENST00000613246.4:c.853T>C | ENSP00000477933.1:p.Leu285= | |
| ENST00000615445.4:c.853T>C | ENSP00000479342.1:p.Leu285= | |
| NM_001098503.1:c.853T>C | NP_001091973.1:p.Leu285= | |
| NM_002843.3:c.853T>C | NP_002834.3:p.Leu285= | |
| XM_011520249.1:c.886T>C | XP_011518551.1:p.Leu296= | |
| XR_930883.1:n.1203T>C | ||
| XM_017018083.1:c.931T>C | XP_016873572.1:p.Leu311= | |
| XM_017018084.1:c.874T>C | XP_016873573.1:p.Leu292= | |
| XM_017018085.1:c.805T>C | XP_016873574.1:p.Leu269= | |
| XR_930883.2:n.1262T>C | ||
| NM_002843.4:c.853T>C MANE Select | NP_002834.3:p.Leu285= | |
| NM_001098503.2:c.853T>C | NP_001091973.1:p.Leu285= |