Linked Data
dbSNP Id:
rs17197037
gnomAD v2:
14-21725654-G-A
gnomAD v3:
14-21257495-G-A
gnomAD v4:
14-21257495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21257495G>A , CM000676.2:g.21257495G>A | GRCh38 |
| NC_000014.8:g.21725654G>A , CM000676.1:g.21725654G>A | GRCh37 |
| NC_000014.7:g.20795494G>A | NCBI36 |
| NG_029011.1:g.16985C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553300.6:c.-37+5816C>T MANE Select | ENSP00000450544.1:n.-37+5816C>T | |
| ENST00000336053.10:c.-37+11803C>T | ENSP00000338095.6:n.-37+11803C>T | |
| ENST00000420743.6:c.-37+5106C>T | ENSP00000404848.2:n.-37+5106C>T | |
| ENST00000430246.6:c.-37+5106C>T | ENSP00000442816.1:n.-37+5106C>T | |
| ENST00000553300.5:c.-37+5816C>T | ENSP00000450544.1:n.-37+5816C>T | |
| ENST00000553614.5:n.152+5816C>T | ||
| ENST00000553753.5:c.-37+5816C>T | ENSP00000450548.1:n.-37+5816C>T | |
| ENST00000554383.5:c.-37+5816C>T | ENSP00000452021.1:n.-37+5816C>T | |
| ENST00000554455.5:c.-37+5816C>T | ENSP00000451291.1:n.-37+5816C>T | |
| ENST00000554539.5:c.-35+5816C>T | ENSP00000452545.1:n.-35+5816C>T | |
| ENST00000554891.5:c.-100+5816C>T | ENSP00000450467.1:n.-100+5816C>T | |
| ENST00000554969.5:c.-37+5816C>T | ENSP00000450725.1:n.-37+5816C>T | |
| ENST00000555137.5:c.-125+5816C>T | ENSP00000452185.1:n.-125+5816C>T | |
| ENST00000555176.5:c.-125+5816C>T | ENSP00000452573.1:n.-125+5816C>T | |
| ENST00000555215.5:c.-37+5816C>T | ENSP00000452213.1:n.-37+5816C>T | |
| ENST00000555309.5:c.-37+5816C>T | ENSP00000450790.1:n.-37+5816C>T | |
| ENST00000555883.5:c.-37+11803C>T | ENSP00000450629.1:n.-37+11803C>T | |
| ENST00000555914.5:c.-37+5816C>T | ENSP00000451708.1:n.-37+5816C>T | |
| ENST00000556142.5:c.-37+11803C>T | ENSP00000451187.1:n.-37+11803C>T | |
| ENST00000556226.5:c.-125+5816C>T | ENSP00000451292.1:n.-125+5816C>T | |
| ENST00000556513.5:c.-37+5816C>T | ENSP00000452214.1:n.-37+5816C>T | |
| ENST00000556628.5:c.-37+5816C>T | ENSP00000451652.1:n.-37+5816C>T | |
| ENST00000556897.5:c.-37+5106C>T | ENSP00000451176.1:n.-37+5106C>T | |
| ENST00000557201.5:c.-37+11803C>T | ENSP00000452276.1:n.-37+11803C>T | |
| ENST00000557336.1:c.-83-2902C>T | ENSP00000451892.1:n.-83-2902C>T | |
| ENST00000557442.5:c.-37+5816C>T | ENSP00000452599.1:n.-37+5816C>T | |
| ENST00000557768.1:c.-37+5816C>T | ENSP00000450669.1:n.-37+5816C>T | |
| NM_001077442.1:c.-37+11803C>T | NP_001070910.1:n.-37+11803C>T | |
| NM_001077443.1:c.-37+11803C>T | NP_001070911.1:n.-37+11803C>T | |
| NM_004500.3:c.-37+5816C>T | NP_004491.2:n.-37+5816C>T | |
| NM_031314.2:c.-37+5816C>T | NP_112604.2:n.-37+5816C>T | |
| XM_006720125.2:c.-37+5106C>T | XP_006720188.1:n.-37+5106C>T | |
| XM_011536708.1:c.-125+5816C>T | XP_011535010.1:n.-125+5816C>T | |
| XM_011536709.1:c.-37+5816C>T | XP_011535011.1:n.-37+5816C>T | |
| XM_011536710.1:c.-37+5106C>T | XP_011535012.1:n.-37+5106C>T | |
| XM_011536711.1:c.-37+5099C>T | XP_011535013.1:n.-37+5099C>T | |
| XM_011536712.1:c.-125+5816C>T | XP_011535014.1:n.-125+5816C>T | |
| XM_006720125.3:c.-37+5106C>T | XP_006720188.1:n.-37+5106C>T | |
| XM_011536709.3:c.-37+5816C>T | XP_011535011.1:n.-37+5816C>T | |
| XM_011536710.2:c.-37+5106C>T | XP_011535012.1:n.-37+5106C>T | |
| XM_011536711.2:c.-37+5099C>T | XP_011535013.1:n.-37+5099C>T | |
| XM_011536712.2:c.-125+5816C>T | XP_011535014.1:n.-125+5816C>T | |
| XM_017021252.2:c.-37+5099C>T | XP_016876741.1:n.-37+5099C>T | |
| XM_017021253.2:c.-37+5816C>T | XP_016876742.1:n.-37+5816C>T | |
| XM_024449556.1:c.-37+5106C>T | XP_024305324.1:n.-37+5106C>T | |
| XM_024449557.1:c.-37+5099C>T | XP_024305325.1:n.-37+5099C>T | |
| XM_024449558.1:c.-37+5106C>T | XP_024305326.1:n.-37+5106C>T | |
| XM_024449559.1:c.-37+5099C>T | XP_024305327.1:n.-37+5099C>T | |
| NM_001077442.2:c.-37+11803C>T | NP_001070910.1:n.-37+11803C>T | |
| NM_001077443.2:c.-37+11803C>T | NP_001070911.1:n.-37+11803C>T | |
| NM_004500.4:c.-37+5816C>T MANE Select | NP_004491.2:n.-37+5816C>T | |
| NM_031314.3:c.-37+5816C>T | NP_112604.2:n.-37+5816C>T |