Linked Data
ClinVar Variation Id:
1357118
ClinVar RCV Id:
RCV001870437
dbSNP Id:
rs1209143268
gnomAD v2:
2-44104979-T-G
gnomAD v4:
2-43877840-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877840T>G , CM000664.2:g.43877840T>G | GRCh38 |
| NC_000002.11:g.44104979T>G , CM000664.1:g.44104979T>G | GRCh37 |
| NC_000002.10:g.43958483T>G | NCBI36 |
| NG_008884.1:g.43877T>G | |
| NG_008884.2:g.50899T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1949T>G MANE Select | ENSP00000272286.2:p.Leu650Arg | |
| ENST00000272286.2:c.1949T>G | ENSP00000272286.2:p.Leu650Arg | |
| NM_022437.2:c.1949T>G | NP_071882.1:p.Leu650Arg | |
| XM_005264483.2:c.1946T>G | XP_005264540.1:p.Leu649Arg | |
| XM_011533029.1:c.1961T>G | XP_011531331.1:p.Leu654Arg | |
| XM_011533030.1:c.1958T>G | XP_011531332.1:p.Leu653Arg | |
| XM_011533031.1:c.1733T>G | XP_011531333.1:p.Leu578Arg | |
| XR_939707.1:n.2451T>G | ||
| NM_001357321.1:c.1946T>G | NP_001344250.1:p.Leu649Arg | |
| XM_011533029.2:c.1961T>G | XP_011531331.1:p.Leu654Arg | |
| XM_011533030.2:c.1958T>G | XP_011531332.1:p.Leu653Arg | |
| XR_001738891.1:n.2465T>G | ||
| XR_939707.2:n.2465T>G | ||
| NM_022437.3:c.1949T>G MANE Select | NP_071882.1:p.Leu650Arg | |
| NM_001357321.2:c.1946T>G | NP_001344250.1:p.Leu649Arg |