Linked Data
ClinVar Variation Id:
100758
dbSNP Id:
rs2280965
ExAC:
21:46330628 C / T
gnomAD v2:
21-46330628-C-T
gnomAD v3:
21-44910713-C-T
gnomAD v4:
21-44910713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44910713C>T , CM000683.2:g.44910713C>T | GRCh38 |
| NC_000021.8:g.46330628C>T , CM000683.1:g.46330628C>T | GRCh37 |
| NC_000021.7:g.45155056C>T | NCBI36 |
| NG_007270.2:g.23126G>A , LRG_76:g.23126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.58+12G>A | ENSP00000303242.6:n.58+12G>A | |
| ENST00000652462.1:c.58+12G>A MANE Select | ENSP00000498780.1:n.58+12G>A | |
| ENST00000302347.9:c.58+12G>A | ENSP00000303242.5:n.58+12G>A | |
| ENST00000355153.8:c.58+12G>A | ENSP00000347279.4:n.58+12G>A | |
| ENST00000397846.7:c.58+12G>A | ENSP00000380944.3:n.58+12G>A | |
| ENST00000397850.6:c.58+12G>A | ENSP00000380948.2:n.58+12G>A | |
| ENST00000397852.5:c.58+12G>A | ENSP00000380950.1:n.58+12G>A | |
| ENST00000397854.7:c.58+12G>A | ENSP00000380952.3:n.58+12G>A | |
| ENST00000397857.5:c.58+12G>A | ENSP00000380955.1:n.58+12G>A | |
| ENST00000479849.1:n.29G>A | ||
| ENST00000498666.5:n.201+12G>A | ||
| ENST00000517563.5:c.58+12G>A | ENSP00000428413.1:n.58+12G>A | |
| ENST00000517819.5:c.58+12G>A | ENSP00000428870.1:n.58+12G>A | |
| ENST00000518033.1:n.180G>A | ||
| ENST00000520389.5:c.58+12G>A | ENSP00000428434.1:n.58+12G>A | |
| ENST00000521987.1:n.113-7178G>A | ||
| ENST00000521995.1:c.58+12G>A | ENSP00000429683.1:n.58+12G>A | |
| ENST00000522688.5:c.-263G>A | ENSP00000428125.1:n.-263G>A | |
| ENST00000522931.5:c.58+12G>A | ENSP00000428979.1:n.58+12G>A | |
| ENST00000523323.5:c.58+12G>A | ENSP00000427732.1:n.58+12G>A | |
| ENST00000523663.5:c.58+12G>A | ENSP00000428503.1:n.58+12G>A | |
| ENST00000524251.1:c.-306G>A | ENSP00000430901.1:n.-306G>A | |
| ENST00000610622.4:c.58+12G>A | ENSP00000480700.1:n.58+12G>A | |
| NM_000211.4:c.58+12G>A | NP_000202.3:n.58+12G>A | |
| NM_001127491.2:c.58+12G>A | NP_001120963.2:n.58+12G>A | |
| NM_001303238.1:c.-193+12G>A | NP_001290167.1:n.-193+12G>A | |
| XM_006724001.1:c.-263G>A | XP_006724064.1:n.-263G>A | |
| XM_006724001.2:c.-263G>A | XP_006724064.1:n.-263G>A | |
| NM_000211.5:c.58+12G>A MANE Select | NP_000202.3:n.58+12G>A | |
| NM_001127491.3:c.58+12G>A | NP_001120963.2:n.58+12G>A | |
| NM_001303238.2:c.-193+12G>A | NP_001290167.1:n.-193+12G>A |