Linked Data
dbSNP Id:
rs774804924
ExAC:
14:31358991 G / C
gnomAD v2:
14-31358991-G-C
gnomAD v3:
14-30889785-G-C
gnomAD v4:
14-30889785-G-C
MyVariant Identifiers:
chr14:g.31358991G>C (hg19)
chr14:g.31358991_31358992delinsCC (hg19)
chr14:g.30889785G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889785G>C , CM000676.2:g.30889785G>C | GRCh38 |
| NC_000014.8:g.31358991G>C , CM000676.1:g.31358991G>C | GRCh37 |
| NC_000014.7:g.30428742G>C | NCBI36 |
| NG_008211.2:g.20251G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.1842G>C | ENSP00000216361.5:p.Gln614His | |
| ENST00000396618.9:c.1647G>C MANE Select | ENSP00000379862.3:p.Gln549His | |
| ENST00000555117.2:c.1534+3473G>C | ENSP00000493569.1:n.1534+3473G>C | |
| ENST00000643575.1:c.1647G>C | ENSP00000494838.1:p.Gln549His | |
| ENST00000643697.1:n.1949G>C | ||
| ENST00000644874.2:c.1647G>C | ENSP00000496360.1:p.Gln549His | |
| ENST00000216361.8:c.1647G>C | ENSP00000216361.4:p.Gln549His | |
| ENST00000396618.7:c.1647G>C | ENSP00000379862.3:p.Gln549His | |
| ENST00000460581.6:c.1311G>C | ENSP00000451713.1:p.Gln437His | |
| ENST00000468826.2:c.1298G>C | ||
| ENST00000475087.5:c.1477+3473G>C | ENSP00000451528.1:n.1477+3473G>C | |
| NM_001135058.1:c.1647G>C | NP_001128530.1:p.Gln549His | |
| NM_004086.2:c.1647G>C | NP_004077.1:p.Gln549His | |
| NR_038356.1:n.24C>G | ||
| XM_011536539.1:c.1647G>C | XP_011534841.1:p.Gln549His | |
| NM_001347720.1:c.1842G>C | NP_001334649.1:p.Gln614His | |
| XM_017021071.1:c.1842G>C | XP_016876560.1:p.Gln614His | |
| XM_024449506.1:c.1704G>C | XP_024305274.1:p.Gln568His | |
| NM_004086.3:c.1647G>C MANE Select | NP_004077.1:p.Gln549His | |
| NM_001135058.2:c.1647G>C | NP_001128530.1:p.Gln549His | |
| NM_001347720.2:c.1842G>C | NP_001334649.1:p.Gln614His |