Linked Data
ClinVar Variation Id:
2950304
ClinVar RCV Id:
RCV003807662
dbSNP Id:
rs1320587970
gnomAD v2:
14-21792949-T-A
gnomAD v4:
14-21324790-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324790T>A , CM000676.2:g.21324790T>A | GRCh38 |
| NC_000014.8:g.21792949T>A , CM000676.1:g.21792949T>A | GRCh37 |
| NC_000014.7:g.20862789T>A | NCBI36 |
| NG_008933.1:g.41814T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1935T>A MANE Select | ENSP00000382895.2:p.Ala645= | |
| ENST00000382933.8:c.688+2786T>A | ENSP00000372391.4:n.688+2786T>A | |
| ENST00000400017.6:c.1935T>A | ENSP00000382895.2:p.Ala645= | |
| ENST00000553500.5:n.328+65T>A | ||
| ENST00000553927.1:n.867T>A | ||
| ENST00000554303.1:c.321T>A | ENSP00000450426.1:p.Ala107= | |
| ENST00000555322.5:c.362T>A | ||
| ENST00000555489.5:c.212+65T>A | ENSP00000451044.1:n.212+65T>A | |
| ENST00000555587.5:c.360T>A | ENSP00000451262.1:p.Ala120= | |
| ENST00000556336.5:c.1681+2786T>A | ENSP00000450445.1:n.1681+2786T>A | |
| ENST00000557771.5:c.1821T>A | ENSP00000451219.1:p.Ala607= | |
| NM_020366.3:c.1935T>A | NP_065099.3:p.Ala645= | |
| XM_005267879.2:c.861T>A | XP_005267936.1:p.Ala287= | |
| XM_005267880.2:c.828T>A | XP_005267937.1:p.Ala276= | |
| XM_005267881.2:c.309T>A | XP_005267938.1:p.Ala103= | |
| XM_011536978.1:c.861T>A | XP_011535280.1:p.Ala287= | |
| XM_011536979.1:c.796+65T>A | XP_011535281.1:n.796+65T>A | |
| XM_011536980.1:c.796+65T>A | XP_011535282.1:n.796+65T>A | |
| XM_011536981.1:c.861T>A | XP_011535283.1:p.Ala287= | |
| XM_011536982.1:c.796+65T>A | XP_011535284.1:n.796+65T>A | |
| XM_011536983.1:c.1902T>A | XP_011535285.1:p.Ala634= | |
| XM_005267881.3:c.309T>A | XP_005267938.1:p.Ala103= | |
| XM_017021473.1:c.861T>A | XP_016876962.1:p.Ala287= | |
| XM_024449663.1:c.861T>A | XP_024305431.1:p.Ala287= | |
| XM_024449664.1:c.861T>A | XP_024305432.1:p.Ala287= | |
| XM_024449665.1:c.796+65T>A | XP_024305433.1:n.796+65T>A | |
| XM_024449666.1:c.796+65T>A | XP_024305434.1:n.796+65T>A | |
| NM_001377523.1:c.688+2786T>A | NP_001364452.1:n.688+2786T>A | |
| NM_001377948.1:c.861T>A | NP_001364877.1:p.Ala287= | |
| NM_001377949.1:c.796+65T>A | NP_001364878.1:n.796+65T>A | |
| NM_001377950.1:c.688+2786T>A | NP_001364879.1:n.688+2786T>A | |
| NM_001377951.1:c.190+2786T>A | NP_001364880.1:n.190+2786T>A | |
| NM_020366.4:c.1935T>A MANE Select | NP_065099.3:p.Ala645= |