Linked Data
ClinVar Variation Id:
312787
dbSNP Id:
rs372186092
ExAC:
14:21785900 C / T
gnomAD v2:
14-21785900-C-T
gnomAD v3:
14-21317741-C-T
gnomAD v4:
14-21317741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21317741C>T , CM000676.2:g.21317741C>T | GRCh38 |
| NC_000014.8:g.21785900C>T , CM000676.1:g.21785900C>T | GRCh37 |
| NC_000014.7:g.20855740C>T | NCBI36 |
| NG_008933.1:g.34765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1197C>T MANE Select | ENSP00000382895.2:p.Asn399= | |
| ENST00000382933.8:c.123C>T | ENSP00000372391.4:p.Asn41= | |
| ENST00000400017.6:c.1197C>T | ENSP00000382895.2:p.Asn399= | |
| ENST00000556336.5:c.1116C>T | ENSP00000450445.1:p.Asn372= | |
| ENST00000557351.1:c.123C>T | ENSP00000452215.1:p.Asn41= | |
| ENST00000557771.5:c.1116C>T | ENSP00000451219.1:p.Asn372= | |
| NM_020366.3:c.1197C>T | NP_065099.3:p.Asn399= | |
| XM_005267879.2:c.123C>T | XP_005267936.1:p.Asn41= | |
| XM_005267880.2:c.123C>T | XP_005267937.1:p.Asn41= | |
| XM_011536978.1:c.123C>T | XP_011535280.1:p.Asn41= | |
| XM_011536979.1:c.123C>T | XP_011535281.1:p.Asn41= | |
| XM_011536980.1:c.123C>T | XP_011535282.1:p.Asn41= | |
| XM_011536981.1:c.123C>T | XP_011535283.1:p.Asn41= | |
| XM_011536982.1:c.123C>T | XP_011535284.1:p.Asn41= | |
| XM_011536983.1:c.1164C>T | XP_011535285.1:p.Asn388= | |
| XM_017021473.1:c.123C>T | XP_016876962.1:p.Asn41= | |
| XM_024449663.1:c.123C>T | XP_024305431.1:p.Asn41= | |
| XM_024449664.1:c.123C>T | XP_024305432.1:p.Asn41= | |
| XM_024449665.1:c.123C>T | XP_024305433.1:p.Asn41= | |
| XM_024449666.1:c.123C>T | XP_024305434.1:p.Asn41= | |
| NM_001377523.1:c.123C>T | NP_001364452.1:p.Asn41= | |
| NM_001377948.1:c.123C>T | NP_001364877.1:p.Asn41= | |
| NM_001377949.1:c.123C>T | NP_001364878.1:p.Asn41= | |
| NM_001377950.1:c.123C>T | NP_001364879.1:p.Asn41= | |
| NM_020366.4:c.1197C>T MANE Select | NP_065099.3:p.Asn399= |