Linked Data
ClinVar Variation Id:
133433
ClinVar RCV Id:
RCV000119937
dbSNP Id:
rs587778011
ExAC:
2:61719932 T / C
gnomAD v2:
2-61719932-T-C
gnomAD v3:
2-61492797-T-C
gnomAD v4:
2-61492797-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61492797T>C , CM000664.2:g.61492797T>C | GRCh38 |
| NC_000002.11:g.61719932T>C , CM000664.1:g.61719932T>C | GRCh37 |
| NC_000002.10:g.61573436T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401558.7:c.1385-49A>G MANE Select | ENSP00000384863.2:n.1385-49A>G | |
| ENST00000451765.6:c.1245+1097A>G | ENSP00000413853.2:n.1245+1097A>G | |
| ENST00000469337.2:n.591A>G | ||
| ENST00000481073.6:n.1382-49A>G | ||
| ENST00000676553.1:c.1385-49A>G | ENSP00000504247.1:n.1385-49A>G | |
| ENST00000676667.1:c.1385-49A>G | ENSP00000503809.1:n.1385-49A>G | |
| ENST00000676771.1:c.1340-49A>G | ENSP00000503808.1:n.1340-49A>G | |
| ENST00000676778.1:n.1557-49A>G | ||
| ENST00000676783.1:c.*1311-49A>G | ENSP00000503342.1:n.*1311-49A>G | |
| ENST00000676789.1:c.1385-49A>G | ENSP00000504617.1:n.1385-49A>G | |
| ENST00000676889.1:c.1028-49A>G | ENSP00000503075.1:n.1028-49A>G | |
| ENST00000676999.1:c.1385-49A>G | ENSP00000502940.1:n.1385-49A>G | |
| ENST00000677110.1:n.1952-49A>G | ||
| ENST00000677150.1:c.1385-49A>G | ENSP00000503167.1:n.1385-49A>G | |
| ENST00000677157.1:n.1723-49A>G | ||
| ENST00000677190.1:n.2164-49A>G | ||
| ENST00000677239.1:c.1385-49A>G | ENSP00000504087.1:n.1385-49A>G | |
| ENST00000677289.1:c.1276-49A>G | ENSP00000504286.1:n.1276-49A>G | |
| ENST00000677290.1:n.1610-49A>G | ||
| ENST00000677417.1:c.1385-49A>G | ENSP00000503572.1:n.1385-49A>G | |
| ENST00000677422.1:c.*820-49A>G | ENSP00000503474.1:n.*820-49A>G | |
| ENST00000677476.1:c.884-49A>G | ENSP00000503789.1:n.884-49A>G | |
| ENST00000677556.1:c.992-49A>G | ENSP00000504749.1:n.992-49A>G | |
| ENST00000677803.1:c.1169-49A>G | ENSP00000503702.1:n.1169-49A>G | |
| ENST00000677813.1:c.1385-49A>G | ENSP00000504543.1:n.1385-49A>G | |
| ENST00000677814.1:c.1385-49A>G | ENSP00000504848.1:n.1385-49A>G | |
| ENST00000677850.1:c.1385-49A>G | ENSP00000504771.1:n.1385-49A>G | |
| ENST00000677928.1:c.1385-49A>G | ENSP00000504198.1:n.1385-49A>G | |
| ENST00000677933.1:c.1385-49A>G | ENSP00000503482.1:n.1385-49A>G | |
| ENST00000678081.1:c.1385-49A>G | ENSP00000503194.1:n.1385-49A>G | |
| ENST00000678113.1:n.4311-49A>G | ||
| ENST00000678172.1:c.1385-49A>G | ENSP00000503554.1:n.1385-49A>G | |
| ENST00000678182.1:c.1385-49A>G | ENSP00000504594.1:n.1385-49A>G | |
| ENST00000678263.1:c.*930-49A>G | ENSP00000504172.1:n.*930-49A>G | |
| ENST00000678360.1:c.1385-49A>G | ENSP00000503638.1:n.1385-49A>G | |
| ENST00000678741.1:c.1385-49A>G | ENSP00000503395.1:n.1385-49A>G | |
| ENST00000678790.1:c.1385-49A>G | ENSP00000503419.1:n.1385-49A>G | |
| ENST00000678877.1:c.1109-49A>G | ENSP00000502889.1:n.1109-49A>G | |
| ENST00000679035.1:c.*1261-49A>G | ENSP00000502854.1:n.*1261-49A>G | |
| ENST00000680228.1:c.*1038-49A>G | ENSP00000505574.1:n.*1038-49A>G | |
| ENST00000401558.6:c.1385-49A>G | ENSP00000384863.2:n.1385-49A>G | |
| ENST00000404992.6:c.1385-49A>G | ENSP00000385942.2:n.1385-49A>G | |
| ENST00000406957.5:c.1385-49A>G | ENSP00000385559.1:n.1385-49A>G | |
| ENST00000428210.5:c.*3085A>G | ENSP00000407170.1:n.*3085A>G | |
| ENST00000469337.1:n.198A>G | ||
| ENST00000481073.5:n.990-49A>G | ||
| NM_003400.3:c.1385-49A>G | NP_003391.1:n.1385-49A>G | |
| XM_005264544.1:c.1340-49A>G | XP_005264601.1:n.1340-49A>G | |
| XM_005264546.1:c.992-49A>G | XP_005264603.1:n.992-49A>G | |
| XM_006712094.2:c.1385-49A>G | XP_006712157.1:n.1385-49A>G | |
| XM_011533097.1:c.1385-49A>G | XP_011531399.1:n.1385-49A>G | |
| XM_011533098.1:c.1385-49A>G | XP_011531400.1:n.1385-49A>G | |
| XM_011533099.1:c.1187-49A>G | XP_011531401.1:n.1187-49A>G | |
| XM_005264544.2:c.1340-49A>G | XP_005264601.1:n.1340-49A>G | |
| XM_005264546.2:c.992-49A>G | XP_005264603.1:n.992-49A>G | |
| XM_006712094.3:c.1385-49A>G | XP_006712157.1:n.1385-49A>G | |
| XM_011533098.2:c.1385-49A>G | XP_011531400.1:n.1385-49A>G | |
| XM_011533099.3:c.1187-49A>G | XP_011531401.1:n.1187-49A>G | |
| XM_024453125.1:c.1385-49A>G | XP_024308893.1:n.1385-49A>G | |
| XM_024453126.1:c.1385-49A>G | XP_024308894.1:n.1385-49A>G | |
| XM_024453127.1:c.992-49A>G | XP_024308895.1:n.992-49A>G | |
| NM_003400.4:c.1385-49A>G MANE Select | NP_003391.1:n.1385-49A>G |