Linked Data
ClinVar Variation Id:
301773
dbSNP Id:
rs546156675
ExAC:
10:97388111 C / T
gnomAD v2:
10-97388111-C-T
gnomAD v3:
10-95628354-C-T
gnomAD v4:
10-95628354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95628354C>T , CM000672.2:g.95628354C>T | GRCh38 |
| NC_000010.10:g.97388111C>T , CM000672.1:g.97388111C>T | GRCh37 |
| NC_000010.9:g.97378101C>T | NCBI36 |
| NG_012258.1:g.33457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.933+14G>A MANE Select | ENSP00000360268.2:n.933+14G>A | |
| ENST00000371221.3:c.927+14G>A | ENSP00000360265.3:n.927+14G>A | |
| ENST00000371224.6:c.933+14G>A | ENSP00000360268.2:n.933+14G>A | |
| ENST00000489386.1:n.298+14G>A | ||
| NM_001017423.1:c.927+14G>A | NP_001017423.1:n.927+14G>A | |
| NM_002860.3:c.933+14G>A | NP_002851.2:n.933+14G>A | |
| XM_006717933.1:c.933+14G>A | XP_006717996.1:n.933+14G>A | |
| XM_011540001.1:c.600+14G>A | XP_011538303.1:n.600+14G>A | |
| NM_001323412.1:c.600+14G>A | NP_001310341.1:n.600+14G>A | |
| NM_001323413.1:c.933+14G>A | NP_001310342.1:n.933+14G>A | |
| NM_001323414.1:c.933+14G>A | NP_001310343.1:n.933+14G>A | |
| NM_001323415.1:c.927+14G>A | NP_001310344.1:n.927+14G>A | |
| NM_001323416.1:c.600+14G>A | NP_001310345.1:n.600+14G>A | |
| NM_001323417.1:c.828+14G>A | NP_001310346.1:n.828+14G>A | |
| NM_001323418.1:c.594+14G>A | NP_001310347.1:n.594+14G>A | |
| NM_001323419.1:c.297+14G>A | NP_001310348.1:n.297+14G>A | |
| XM_024448094.1:c.933+14G>A | XP_024303862.1:n.933+14G>A | |
| XM_024448095.1:c.933+14G>A | XP_024303863.1:n.933+14G>A | |
| XM_024448096.1:c.927+14G>A | XP_024303864.1:n.927+14G>A | |
| XM_024448097.1:c.600+14G>A | XP_024303865.1:n.600+14G>A | |
| NM_002860.4:c.933+14G>A MANE Select | NP_002851.2:n.933+14G>A | |
| NM_001017423.2:c.927+14G>A | NP_001017423.1:n.927+14G>A | |
| NM_001323412.2:c.600+14G>A | NP_001310341.1:n.600+14G>A | |
| NM_001323413.2:c.933+14G>A | NP_001310342.1:n.933+14G>A | |
| NM_001323414.2:c.933+14G>A | NP_001310343.1:n.933+14G>A | |
| NM_001323415.2:c.927+14G>A | NP_001310344.1:n.927+14G>A | |
| NM_001323416.2:c.600+14G>A | NP_001310345.1:n.600+14G>A | |
| NM_001323417.2:c.828+14G>A | NP_001310346.1:n.828+14G>A | |
| NM_001323418.2:c.594+14G>A | NP_001310347.1:n.594+14G>A | |
| NM_001323419.2:c.297+14G>A | NP_001310348.1:n.297+14G>A |