Linked Data
ClinVar Variation Id:
1233750
ClinVar RCV Id:
RCV001618932
dbSNP Id:
rs11891426
gnomAD v2:
2-238434702-T-G
gnomAD v3:
2-237526059-T-G
gnomAD v4:
2-237526059-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237526059T>G , CM000664.2:g.237526059T>G | GRCh38 |
| NC_000002.11:g.238434702T>G , CM000664.1:g.238434702T>G | GRCh37 |
| NC_000002.10:g.238099441T>G | NCBI36 |
| NG_007286.1:g.43773T>G , LRG_83:g.43773T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264605.8:c.880+254T>G MANE Select | ENSP00000264605.3:n.880+254T>G | |
| ENST00000264605.7:c.880+254T>G | ENSP00000264605.3:n.880+254T>G | |
| ENST00000338530.8:c.880+254T>G | ENSP00000341845.4:n.880+254T>G | |
| ENST00000409373.5:c.760+254T>G | ENSP00000386780.1:n.760+254T>G | |
| ENST00000410032.5:c.675+6030T>G | ENSP00000386338.1:n.675+6030T>G | |
| ENST00000436965.5:c.78+254T>G | ||
| ENST00000437893.5:c.300+254T>G | ENSP00000412438.1:n.300+254T>G | |
| ENST00000464123.5:n.945+254T>G | ||
| ENST00000468178.5:n.1091+254T>G | ||
| ENST00000478712.5:n.559+254T>G | ||
| ENST00000482528.1:n.132+254T>G | ||
| ENST00000485956.1:n.256+254T>G | ||
| ENST00000494110.5:n.560+254T>G | ||
| ENST00000495439.5:n.1257+254T>G | ||
| NM_001042467.2:c.880+254T>G | NP_001035932.1:n.880+254T>G | |
| NM_001281473.1:c.760+254T>G | NP_001268402.1:n.760+254T>G | |
| NM_001281474.1:c.675+6030T>G | NP_001268403.1:n.675+6030T>G | |
| NM_024101.6:c.880+254T>G | NP_077006.1:n.880+254T>G | |
| NR_104019.1:n.1123+254T>G | ||
| XM_006712737.1:c.760+254T>G | XP_006712800.1:n.760+254T>G | |
| XM_006712739.1:c.880+254T>G | XP_006712802.1:n.880+254T>G | |
| XM_006712740.1:c.760+254T>G | XP_006712803.1:n.760+254T>G | |
| XM_011511811.1:c.880+254T>G | XP_011510113.1:n.880+254T>G | |
| XM_011511812.1:c.445+254T>G | XP_011510114.1:n.445+254T>G | |
| XR_923025.1:n.1091+254T>G | ||
| XM_017004893.1:c.880+254T>G | XP_016860382.1:n.880+254T>G | |
| XM_017004894.2:c.880+254T>G | XP_016860383.1:n.880+254T>G | |
| NM_024101.7:c.880+254T>G MANE Select | NP_077006.1:n.880+254T>G | |
| NM_001042467.3:c.880+254T>G | NP_001035932.1:n.880+254T>G | |
| NM_001281473.2:c.760+254T>G | NP_001268402.1:n.760+254T>G | |
| NM_001281474.2:c.675+6030T>G | NP_001268403.1:n.675+6030T>G | |
| NR_104019.2:n.1091+254T>G |