Linked Data
ClinVar Variation Id:
135720
ClinVar RCV Id:
RCV000123678
RCV000211894
RCV000759445
RCV001353450
RCV001151508
RCV004019702
RCV003743582
RCV003997388
dbSNP Id:
rs147704593
ExAC:
5:112137023 G / T
gnomAD v2:
5-112137023-G-T
gnomAD v3:
5-112801326-G-T
gnomAD v4:
5-112801326-G-T
PubMed:
PMID:23159591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112801326G>T , CM000667.2:g.112801326G>T | GRCh38 |
| NC_000005.9:g.112137023G>T , CM000667.1:g.112137023G>T | GRCh37 |
| NC_000005.8:g.112164922G>T | NCBI36 |
| NG_008481.4:g.113806G>T , LRG_130:g.113806G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.777G>T | ENSP00000484935.2:p.Arg259= | |
| ENST00000504915.3:c.777G>T | ENSP00000473355.2:p.Arg259= | |
| ENST00000505084.2:n.833G>T | ||
| ENST00000505350.2:c.*783G>T | ENSP00000481752.1:n.*783G>T | |
| ENST00000507379.6:c.723G>T | ENSP00000423224.2:p.Arg241= | |
| ENST00000509732.6:c.777G>T | ENSP00000426541.2:p.Arg259= | |
| ENST00000512211.7:c.777G>T | ENSP00000423828.3:p.Arg259= | |
| ENST00000257430.9:c.777G>T MANE Select | ENSP00000257430.4:p.Arg259= | |
| ENST00000257430.8:c.777G>T | ENSP00000257430.4:p.Arg259= | |
| ENST00000507379.5:c.723G>T | ENSP00000423224.1:p.Arg241= | |
| ENST00000508376.6:c.777G>T | ENSP00000427089.2:p.Arg259= | |
| ENST00000508624.5:c.777G>T | ENSP00000424265.1:p.Arg259= | |
| ENST00000512211.6:c.777G>T | ENSP00000423828.2:p.Arg259= | |
| NM_000038.5:c.777G>T | NP_000029.2:p.Arg259= | |
| NM_001127510.2:c.777G>T | NP_001120982.1:p.Arg259= | |
| NM_001127511.2:c.723G>T | NP_001120983.2:p.Arg241= | |
| NM_001354895.1:c.777G>T | NP_001341824.1:p.Arg259= | |
| NM_001354896.1:c.777G>T | NP_001341825.1:p.Arg259= | |
| NM_001354897.1:c.807G>T | NP_001341826.1:p.Arg269= | |
| NM_001354898.1:c.702G>T | NP_001341827.1:p.Arg234= | |
| NM_001354899.1:c.693G>T | NP_001341828.1:p.Arg231= | |
| NM_001354900.1:c.600G>T | NP_001341829.1:p.Arg200= | |
| NM_001354901.1:c.600G>T | NP_001341830.1:p.Arg200= | |
| NM_001354902.1:c.807G>T | NP_001341831.1:p.Arg269= | |
| NM_001354903.1:c.777G>T | NP_001341832.1:p.Arg259= | |
| NM_001354904.1:c.702G>T | NP_001341833.1:p.Arg234= | |
| NM_001354905.1:c.600G>T | NP_001341834.1:p.Arg200= | |
| NM_001354906.1:c.-259G>T | NP_001341835.1:n.-259G>T | |
| NM_000038.6:c.777G>T MANE Select | NP_000029.2:p.Arg259= | |
| NM_001127510.3:c.777G>T | NP_001120982.1:p.Arg259= | |
| NM_001127511.3:c.723G>T | NP_001120983.2:p.Arg241= | |
| NM_001354895.2:c.777G>T | NP_001341824.1:p.Arg259= | |
| NM_001354896.2:c.777G>T | NP_001341825.1:p.Arg259= | |
| NM_001354897.2:c.807G>T | NP_001341826.1:p.Arg269= | |
| NM_001354898.2:c.702G>T | NP_001341827.1:p.Arg234= | |
| NM_001354899.2:c.693G>T | NP_001341828.1:p.Arg231= | |
| NM_001354900.2:c.600G>T | NP_001341829.1:p.Arg200= | |
| NM_001354901.2:c.600G>T | NP_001341830.1:p.Arg200= | |
| NM_001354902.2:c.807G>T | NP_001341831.1:p.Arg269= | |
| NM_001354903.2:c.777G>T | NP_001341832.1:p.Arg259= | |
| NM_001354904.2:c.702G>T | NP_001341833.1:p.Arg234= | |
| NM_001354905.2:c.600G>T | NP_001341834.1:p.Arg200= | |
| NM_001354906.2:c.-259G>T | NP_001341835.1:n.-259G>T |