Linked Data
ClinVar Variation Id:
737895
ClinVar RCV Id:
RCV000913722
dbSNP Id:
rs753136567
ExAC:
3:134323276 C / T
gnomAD v2:
3-134323276-C-T
gnomAD v3:
3-134604434-C-T
gnomAD v4:
3-134604434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.134604434C>T , CM000665.2:g.134604434C>T | GRCh38 |
| NC_000003.11:g.134323276C>T , CM000665.1:g.134323276C>T | GRCh37 |
| NC_000003.10:g.135805966C>T | NCBI36 |
| NG_054713.1:g.56620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423778.7:c.1131G>A (KY) MANE Select | ENSP00000397598.2:p.Pro377= | |
| ENST00000423778.6:c.1131G>A (KY) | ENSP00000397598.2:p.Pro377= | |
| ENST00000467708.2:n.106+6450C>T (EPHB1) | ||
| ENST00000472904.5:n.161+6450C>T (EPHB1) | ||
| ENST00000503669.1:c.*13G>A (KY) | ENSP00000426777.1:n.*13G>A | |
| ENST00000508956.5:c.1068G>A (KY) | ENSP00000421297.1:p.Pro356= | |
| NM_178554.4:c.1131G>A (KY) | NP_848649.3:p.Pro377= | |
| XM_005247417.2:c.1254G>A (KY) | XP_005247474.1:p.Pro418= | |
| XM_005247418.2:c.1245G>A (KY) | XP_005247475.1:p.Pro415= | |
| XM_006713612.2:c.1191G>A (KY) | XP_006713675.1:p.Pro397= | |
| XM_011512747.1:c.831G>A (KY) | XP_011511049.1:p.Pro277= | |
| XR_241572.2:n.284+6450C>T | ||
| XR_427411.2:n.284+6450C>T | ||
| XR_924521.1:n.284+6450C>T | ||
| NM_001350859.1:c.1083G>A (KY) | NP_001337788.1:p.Pro361= | |
| NM_001366276.1:c.1068G>A (KY) | NP_001353205.1:p.Pro356= | |
| NM_178554.5:c.1131G>A (KY) | NP_848649.3:p.Pro377= | |
| XM_006713612.3:c.1191G>A (KY) | XP_006713675.1:p.Pro397= | |
| XM_017006287.1:c.1323G>A (KY) | XP_016861776.1:p.Pro441= | |
| XM_017006288.1:c.1269G>A (KY) | XP_016861777.1:p.Pro423= | |
| XM_017006290.1:c.1206G>A (KY) | XP_016861779.1:p.Pro402= | |
| XM_024453389.1:c.-408+6450C>T (EPHB1) | XP_024309157.1:n.-408+6450C>T | |
| XM_024453390.1:c.-408+3234C>T (EPHB1) | XP_024309158.1:n.-408+3234C>T | |
| XR_002959586.1:n.1672+6450C>T (CEP63) | ||
| XR_002959589.1:n.1567+6450C>T (CEP63) | ||
| NM_178554.6:c.1131G>A (KY) MANE Select | NP_848649.3:p.Pro377= | |
| NM_001350859.2:c.1083G>A (KY) | NP_001337788.1:p.Pro361= |