Linked Data
ClinVar Variation Id:
312953
dbSNP Id:
rs761308889
ExAC:
14:24710405 G / A
gnomAD v2:
14-24710405-G-A
gnomAD v3:
14-24241199-G-A
gnomAD v4:
14-24241199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24241199G>A , CM000676.2:g.24241199G>A | GRCh38 |
| NC_000014.8:g.24710405G>A , CM000676.1:g.24710405G>A | GRCh37 |
| NC_000014.7:g.23780245G>A | NCBI36 |
| NG_016650.1:g.6476C>T | |
| NG_054634.1:g.13783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.810+5C>T | ||
| ENST00000557921.3:c.400-83C>T | ENSP00000453157.3:n.400-83C>T | |
| ENST00000699682.1:n.815C>T | ||
| ENST00000699683.1:n.947+5C>T | ||
| ENST00000699684.1:c.*100+5C>T | ENSP00000514523.1:n.*100+5C>T | |
| ENST00000699685.1:n.809-324C>T | ||
| ENST00000699686.1:c.300+5C>T | ENSP00000514524.1:n.300+5C>T | |
| ENST00000699687.1:c.402+5C>T | ENSP00000514525.1:n.402+5C>T | |
| ENST00000699688.1:n.708-83C>T | ||
| ENST00000699689.1:n.1063+5C>T | ||
| ENST00000699690.1:n.1178C>T | ||
| ENST00000699691.1:n.1178C>T | ||
| ENST00000699693.1:n.780+5C>T | ||
| ENST00000699694.1:n.1022+5C>T | ||
| ENST00000699695.1:c.295-324C>T | ENSP00000514526.1:n.295-324C>T | |
| ENST00000699696.1:n.810+5C>T | ||
| ENST00000699697.1:c.507+5C>T | ENSP00000514527.1:n.507+5C>T | |
| ENST00000699698.1:n.428+5C>T | ||
| ENST00000699699.1:n.605C>T | ||
| ENST00000699700.1:n.810+5C>T | ||
| ENST00000699701.1:c.512C>T | ENSP00000514528.1:p.Ser171Leu | |
| ENST00000267415.12:c.507+5C>T MANE Select | ENSP00000267415.7:n.507+5C>T | |
| ENST00000557921.2:c.400-83C>T | ENSP00000453157.2:n.400-83C>T | |
| ENST00000646753.1:c.402+5C>T | ENSP00000494065.1:n.402+5C>T | |
| ENST00000267415.11:c.507+5C>T | ENSP00000267415.7:n.507+5C>T | |
| ENST00000399423.8:c.507+5C>T | ENSP00000382350.4:n.507+5C>T | |
| ENST00000558476.5:c.69+5C>T | ENSP00000452724.1:n.69+5C>T | |
| ENST00000558566.1:c.400-324C>T | ENSP00000453025.1:n.400-324C>T | |
| ENST00000559019.1:c.193-324C>T | ENSP00000453675.1:n.193-324C>T | |
| ENST00000559147.1:n.522C>T | ||
| ENST00000559549.1:n.233+5C>T | ||
| ENST00000559969.5:c.463+5C>T | ||
| ENST00000626689.2:c.400-324C>T | ENSP00000486681.1:n.400-324C>T | |
| NM_001099274.1:c.507+5C>T | NP_001092744.1:n.507+5C>T | |
| NM_012461.2:c.507+5C>T | NP_036593.2:n.507+5C>T | |
| XM_005267528.2:c.507+5C>T | XP_005267585.1:n.507+5C>T | |
| XM_005267529.2:c.402+5C>T | XP_005267586.1:n.402+5C>T | |
| XM_011536642.1:c.512C>T | XP_011534944.1:p.Ser171Leu | |
| NM_001099274.2:c.507+5C>T | NP_001092744.1:n.507+5C>T | |
| NM_001363668.1:c.402+5C>T | NP_001350597.1:n.402+5C>T | |
| NM_012461.3:c.507+5C>T | NP_036593.2:n.507+5C>T | |
| XM_011536642.2:c.512C>T | XP_011534944.1:p.Ser171Leu | |
| XM_017021216.2:c.-38-324C>T | XP_016876705.1:n.-38-324C>T | |
| XM_017021217.1:c.-54C>T | XP_016876706.1:n.-54C>T | |
| NM_001099274.3:c.507+5C>T MANE Select | NP_001092744.1:n.507+5C>T | |
| NM_001363668.2:c.402+5C>T | NP_001350597.1:n.402+5C>T |