Linked Data
ClinVar Variation Id:
729061
ClinVar RCV Id:
RCV000903650
dbSNP Id:
rs748722869
ExAC:
14:91739251 C / T
gnomAD v2:
14-91739251-C-T
gnomAD v3:
14-91272907-C-T
gnomAD v4:
14-91272907-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272907C>T , CM000676.2:g.91272907C>T | GRCh38 |
| NC_000014.8:g.91739251C>T , CM000676.1:g.91739251C>T | GRCh37 |
| NC_000014.7:g.90809004C>T | NCBI36 |
| NG_033118.1:g.149938G>A | |
| NG_033118.2:g.149938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5805G>A MANE Select | ENSP00000374507.6:p.Pro1935= | |
| ENST00000331194.8:c.1239G>A | ENSP00000330332.8:p.Pro413= | |
| ENST00000389857.10:c.5805G>A | ENSP00000374507.6:p.Pro1935= | |
| ENST00000556726.5:c.2033G>A | ||
| NM_001080414.3:c.5805G>A | NP_001073883.2:p.Pro1935= | |
| XM_011536796.1:c.5697G>A | XP_011535098.1:p.Pro1899= | |
| XM_011536796.2:c.5697G>A | XP_011535098.1:p.Pro1899= | |
| XM_017021336.1:c.2886G>A | XP_016876825.1:p.Pro962= | |
| NM_001080414.4:c.5805G>A MANE Select | NP_001073883.2:p.Pro1935= |