Linked Data
ClinVar Variation Id:
2451826
ClinVar RCV Id:
RCV003187522
MyVariant Identifiers:
chr17:g.17122408G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17219094G>C , CM000679.2:g.17219094G>C | GRCh38 |
| NC_000017.10:g.17122408G>C , CM000679.1:g.17122408G>C | GRCh37 |
| NC_000017.9:g.17063133G>C | NCBI36 |
| NG_008001.2:g.23095C>G , LRG_325:g.23095C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.987C>G MANE Select | ENSP00000285071.4:p.Ser329= | |
| ENST00000285071.8:c.987C>G | ENSP00000285071.4:p.Ser329= | |
| ENST00000427497.3:c.149-40C>G | ENSP00000394249.3:n.149-40C>G | |
| ENST00000577591.1:n.10C>G | ||
| NM_144997.5:c.987C>G , LRG_325t1:c.987C>G | NP_659434.2:p.Ser329= | |
| XM_011523714.1:c.1041C>G | XP_011522016.1:p.Ser347= | |
| XM_011523715.1:c.1041C>G | XP_011522017.1:p.Ser347= | |
| XM_011523716.1:c.1041C>G | XP_011522018.1:p.Ser347= | |
| XM_011523717.1:c.1041C>G | XP_011522019.1:p.Ser347= | |
| XM_011523718.1:c.1041C>G | XP_011522020.1:p.Ser347= | |
| XM_011523719.1:c.1041C>G | XP_011522021.1:p.Ser347= | |
| XM_011523720.1:c.765C>G | XP_011522022.1:p.Ser255= | |
| XM_011523721.1:c.1041C>G | XP_011522023.1:p.Ser347= | |
| XR_934007.1:n.2381C>G | ||
| NM_001353229.1:c.1041C>G | NP_001340158.1:p.Ser347= | |
| NM_001353230.1:c.987C>G | NP_001340159.1:p.Ser329= | |
| NM_001353231.1:c.987C>G | NP_001340160.1:p.Ser329= | |
| NM_144997.6:c.987C>G | NP_659434.2:p.Ser329= | |
| XM_011523714.3:c.1041C>G | XP_011522016.1:p.Ser347= | |
| XM_011523718.3:c.1041C>G | XP_011522020.1:p.Ser347= | |
| XM_011523719.3:c.1041C>G | XP_011522021.1:p.Ser347= | |
| XM_011523721.3:c.1041C>G | XP_011522023.1:p.Ser347= | |
| XM_017024305.2:c.1041C>G | XP_016879794.1:p.Ser347= | |
| XM_017024308.1:c.987C>G | XP_016879797.1:p.Ser329= | |
| XM_017024309.2:c.765C>G | XP_016879798.1:p.Ser255= | |
| XM_024450635.1:c.1041C>G | XP_024306403.1:p.Ser347= | |
| XR_001752445.2:n.1545C>G | ||
| NM_144997.7:c.987C>G MANE Select | NP_659434.2:p.Ser329= | |
| NM_001353229.2:c.1041C>G | NP_001340158.1:p.Ser347= | |
| NM_001353230.2:c.987C>G | NP_001340159.1:p.Ser329= | |
| NM_001353231.2:c.987C>G | NP_001340160.1:p.Ser329= |