Linked Data
ClinVar Variation Id:
409785
dbSNP Id:
rs370131461
ExAC:
4:55598034 C / T
gnomAD v2:
4-55598034-C-T
gnomAD v3:
4-54731868-C-T
gnomAD v4:
4-54731868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54731868C>T , CM000666.2:g.54731868C>T | GRCh38 |
| NC_000004.11:g.55598034C>T , CM000666.1:g.55598034C>T | GRCh37 |
| NC_000004.10:g.55292791C>T | NCBI36 |
| NG_007456.1:g.78874C>T , LRG_307:g.78874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2222-3C>T | ENSP00000390987.3:n.2222-3C>T | |
| ENST00000685269.1:n.2312-3C>T | ||
| ENST00000686011.1:c.2219-3C>T | ENSP00000509704.1:n.2219-3C>T | |
| ENST00000687109.1:c.2237-3C>T | ENSP00000509371.1:n.2237-3C>T | |
| ENST00000687208.1:n.2646-3C>T | ||
| ENST00000687246.1:c.2222-3C>T | ENSP00000509114.1:n.2222-3C>T | |
| ENST00000687265.1:n.2392-3C>T | ||
| ENST00000687295.1:c.2222-3C>T | ENSP00000509450.1:n.2222-3C>T | |
| ENST00000688060.1:n.31-3C>T | ||
| ENST00000688704.1:n.175-3C>T | ||
| ENST00000689832.1:c.2234-3C>T | ENSP00000509084.1:n.2234-3C>T | |
| ENST00000689994.1:c.1724-3C>T | ENSP00000509156.1:n.1724-3C>T | |
| ENST00000690543.1:c.2225-3C>T | ENSP00000508831.1:n.2225-3C>T | |
| ENST00000690917.1:n.2452-3C>T | ||
| ENST00000691361.1:n.1144-3C>T | ||
| ENST00000692783.1:c.2231-3C>T | ENSP00000508733.1:n.2231-3C>T | |
| ENST00000692991.1:n.2331-3C>T | ||
| ENST00000288135.6:c.2234-3C>T MANE Select | ENSP00000288135.6:n.2234-3C>T | |
| ENST00000288135.5:c.2234-3C>T | ENSP00000288135.5:n.2234-3C>T | |
| ENST00000412167.6:c.2222-3C>T | ENSP00000390987.2:n.2222-3C>T | |
| ENST00000512959.1:n.287-3C>T | ||
| NM_000222.2:c.2234-3C>T , LRG_307t1:c.2234-3C>T | NP_000213.1:n.2234-3C>T | |
| NM_001093772.1:c.2222-3C>T | NP_001087241.1:n.2222-3C>T | |
| XM_005265740.1:c.2237-3C>T | XP_005265797.1:n.2237-3C>T | |
| XM_005265741.1:c.2234-3C>T | XP_005265798.1:n.2234-3C>T | |
| XM_005265742.1:c.2225-3C>T | XP_005265799.1:n.2225-3C>T | |
| XM_005265742.3:c.2225-3C>T | XP_005265799.1:n.2225-3C>T | |
| XM_017008178.1:c.2231-3C>T | XP_016863667.1:n.2231-3C>T | |
| XM_017008179.1:c.2222-3C>T | XP_016863668.1:n.2222-3C>T | |
| XM_017008180.1:c.2219-3C>T | XP_016863669.1:n.2219-3C>T | |
| NM_000222.3:c.2234-3C>T MANE Select | NP_000213.1:n.2234-3C>T | |
| NM_001093772.2:c.2222-3C>T | NP_001087241.1:n.2222-3C>T | |
| NM_001385284.1:c.2237-3C>T | NP_001372213.1:n.2237-3C>T | |
| NM_001385285.1:c.2231-3C>T | NP_001372214.1:n.2231-3C>T | |
| NM_001385286.1:c.2219-3C>T | NP_001372215.1:n.2219-3C>T | |
| NM_001385288.1:c.2225-3C>T | NP_001372217.1:n.2225-3C>T | |
| NM_001385290.1:c.2234-3C>T | NP_001372219.1:n.2234-3C>T | |
| NM_001385292.1:c.2222-3C>T | NP_001372221.1:n.2222-3C>T |