Linked Data
dbSNP Id:
rs980350108
ExAC:
14:21780626 G / A
gnomAD v2:
14-21780626-G-A
gnomAD v3:
14-21312467-G-A
gnomAD v4:
14-21312467-G-A
MyVariant Identifiers:
chr14:g.21780626G>A (hg19)
chr14:g.21780626_21780627delinsAA (hg19)
chr14:g.21312467G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312467G>A , CM000676.2:g.21312467G>A | GRCh38 |
| NC_000014.8:g.21780626G>A , CM000676.1:g.21780626G>A | GRCh37 |
| NC_000014.7:g.20850466G>A | NCBI36 |
| NG_008933.1:g.29491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1112G>A MANE Select | ENSP00000382895.2:p.Arg371Gln | |
| ENST00000400017.6:c.1112G>A | ENSP00000382895.2:p.Arg371Gln | |
| ENST00000556336.5:c.1031G>A | ENSP00000450445.1:p.Arg344Gln | |
| ENST00000557771.5:c.1031G>A | ENSP00000451219.1:p.Arg344Gln | |
| NM_020366.3:c.1112G>A | NP_065099.3:p.Arg371Gln | |
| XM_011536983.1:c.1079G>A | XP_011535285.1:p.Arg360Gln | |
| NM_020366.4:c.1112G>A MANE Select | NP_065099.3:p.Arg371Gln |