Linked Data
ClinVar Variation Id:
1901403
ClinVar RCV Id:
RCV002576943
dbSNP Id:
rs770380716
ExAC:
14:91739086 G / T
gnomAD v2:
14-91739086-G-T
gnomAD v4:
14-91272742-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272742G>T , CM000676.2:g.91272742G>T | GRCh38 |
| NC_000014.8:g.91739086G>T , CM000676.1:g.91739086G>T | GRCh37 |
| NC_000014.7:g.90808839G>T | NCBI36 |
| NG_033118.1:g.150103C>A | |
| NG_033118.2:g.150103C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5970C>A MANE Select | ENSP00000374507.6:p.Pro1990= | |
| ENST00000331194.8:c.1404C>A | ENSP00000330332.8:p.Pro468= | |
| ENST00000389857.10:c.5970C>A | ENSP00000374507.6:p.Pro1990= | |
| ENST00000556726.5:c.2198C>A | ||
| NM_001080414.3:c.5970C>A | NP_001073883.2:p.Pro1990= | |
| XM_011536796.1:c.5862C>A | XP_011535098.1:p.Pro1954= | |
| XM_011536796.2:c.5862C>A | XP_011535098.1:p.Pro1954= | |
| XM_017021336.1:c.3051C>A | XP_016876825.1:p.Pro1017= | |
| NM_001080414.4:c.5970C>A MANE Select | NP_001073883.2:p.Pro1990= |