Linked Data
ClinVar Variation Id:
7296
ClinVar RCV Id:
RCV000007719
dbSNP Id:
rs104894210
ExAC:
11:88070725 C / G
gnomAD v2:
11-88070725-C-G
gnomAD v3:
11-88337557-C-G
gnomAD v4:
11-88337557-C-G
PubMed:
PMID:11180012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88337557C>G , CM000673.2:g.88337557C>G | GRCh38 |
| NC_000011.9:g.88070725C>G , CM000673.1:g.88070725C>G | GRCh37 |
| NC_000011.8:g.87710373C>G | NCBI36 |
| NG_007952.1:g.5217G>C , LRG_50:g.5217G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227266.10:c.116G>C MANE Select | ENSP00000227266.4:p.Trp39Ser | |
| ENST00000393301.5:c.116G>C | ENSP00000503502.1:p.Trp39Ser | |
| ENST00000524463.6:c.116G>C | ENSP00000432541.1:p.Trp39Ser | |
| ENST00000527018.6:c.116G>C | ENSP00000432556.2:p.Trp39Ser | |
| ENST00000528020.2:c.-177+151G>C | ENSP00000433229.2:n.-177+151G>C | |
| ENST00000529974.2:c.116G>C | ENSP00000433539.1:p.Trp39Ser | |
| ENST00000533865.6:n.180G>C | ||
| ENST00000533897.2:n.164G>C | ||
| ENST00000534131.2:n.170G>C | ||
| ENST00000676612.1:c.116G>C | ENSP00000504440.1:p.Trp39Ser | |
| ENST00000677106.1:c.116G>C | ENSP00000504568.1:p.Trp39Ser | |
| ENST00000677208.1:c.116G>C | ENSP00000504347.1:p.Trp39Ser | |
| ENST00000677468.1:c.116G>C | ENSP00000503100.1:p.Trp39Ser | |
| ENST00000677661.1:c.116G>C | ENSP00000503323.1:p.Trp39Ser | |
| ENST00000677796.1:c.116G>C | ENSP00000504297.1:p.Trp39Ser | |
| ENST00000677802.1:c.116G>C | ENSP00000504115.1:p.Trp39Ser | |
| ENST00000677877.1:c.116G>C | ENSP00000504427.1:p.Trp39Ser | |
| ENST00000677976.1:c.116G>C | ENSP00000502887.1:p.Trp39Ser | |
| ENST00000678395.1:c.116G>C | ENSP00000503123.1:p.Trp39Ser | |
| ENST00000678464.1:c.116G>C | ENSP00000503046.1:p.Trp39Ser | |
| ENST00000678506.1:c.116G>C | ENSP00000503580.1:p.Trp39Ser | |
| ENST00000678520.1:c.116G>C | ENSP00000503361.1:p.Trp39Ser | |
| ENST00000678554.1:c.116G>C | ENSP00000504541.1:p.Trp39Ser | |
| ENST00000678915.1:c.116G>C | ENSP00000504805.1:p.Trp39Ser | |
| ENST00000679032.1:c.116G>C | ENSP00000504567.1:p.Trp39Ser | |
| ENST00000679199.1:c.116G>C | ENSP00000504179.1:p.Trp39Ser | |
| ENST00000679224.1:c.-192+151G>C | ENSP00000504475.1:n.-192+151G>C | |
| ENST00000227266.9:c.116G>C | ENSP00000227266.4:p.Trp39Ser | |
| ENST00000393301.4:n.144G>C | ||
| ENST00000524463.5:c.116G>C | ENSP00000432541.1:p.Trp39Ser | |
| ENST00000527018.5:c.42+151G>C | ||
| ENST00000529974.1:c.116G>C | ENSP00000433539.1:p.Trp39Ser | |
| ENST00000533865.5:n.184G>C | ||
| ENST00000534131.1:n.180G>C | ||
| NM_001114173.1:c.116G>C | NP_001107645.1:p.Trp39Ser | |
| NM_001114173.2:c.116G>C | NP_001107645.1:p.Trp39Ser | |
| NM_001814.4:c.116G>C , LRG_50t1:c.116G>C | NP_001805.3:p.Trp39Ser | |
| NM_148170.3:c.116G>C | NP_680475.1:p.Trp39Ser | |
| NM_148170.4:c.116G>C | NP_680475.1:p.Trp39Ser | |
| NM_001814.5:c.116G>C | NP_001805.3:p.Trp39Ser | |
| NM_001814.6:c.116G>C MANE Select | NP_001805.4:p.Trp39Ser | |
| NM_001114173.3:c.116G>C | NP_001107645.1:p.Trp39Ser | |
| NM_148170.5:c.116G>C | NP_680475.1:p.Trp39Ser |