Linked Data
ClinVar Variation Id:
1691441
ClinVar RCV Id:
RCV002254514
dbSNP Id:
rs2105280902
MutSpliceDB:
CA349045620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165880677A>T , CM000664.2:g.165880677A>T | GRCh38 |
| NC_000002.11:g.166737187A>T , CM000664.1:g.166737187A>T | GRCh37 |
| NC_000002.10:g.166445433A>T | NCBI36 |
| NG_030345.1:g.78162T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3805+2T>A MANE Select | ENSP00000243344.7:n.3805+2T>A | |
| ENST00000497425.2:n.916T>A | ||
| ENST00000652557.1:c.3805+2T>A | ENSP00000498617.1:n.3805+2T>A | |
| ENST00000679356.1:c.3802+2T>A | ENSP00000506245.1:n.3802+2T>A | |
| ENST00000679676.1:c.3694+2T>A | ENSP00000505492.1:n.3694+2T>A | |
| ENST00000679799.1:c.3805+2T>A | ENSP00000505208.1:n.3805+2T>A | |
| ENST00000679840.1:c.3807T>A | ENSP00000505248.1:p.Gly1269= | |
| ENST00000679931.1:c.*2847+2T>A | ENSP00000505632.1:n.*2847+2T>A | |
| ENST00000679967.1:c.3796+2T>A | ENSP00000506607.1:n.3796+2T>A | |
| ENST00000680327.1:c.*2847+2T>A | ENSP00000506639.1:n.*2847+2T>A | |
| ENST00000680657.1:n.3916+2T>A | ||
| ENST00000680690.1:c.*3057+2T>A | ENSP00000506121.1:n.*3057+2T>A | |
| ENST00000680888.1:c.3805+2T>A | ENSP00000506276.1:n.3805+2T>A | |
| ENST00000680925.1:n.1837T>A | ||
| ENST00000680947.1:c.*3077+2T>A | ENSP00000506496.1:n.*3077+2T>A | |
| ENST00000681024.1:c.3805+2T>A | ENSP00000506449.1:n.3805+2T>A | |
| ENST00000681083.1:c.*3536+2T>A | ENSP00000506095.1:n.*3536+2T>A | |
| ENST00000681167.1:n.3683+2T>A | ||
| ENST00000681483.1:c.*615+2T>A | ENSP00000505499.1:n.*615+2T>A | |
| ENST00000681502.1:c.*7065+2T>A | ENSP00000505644.1:n.*7065+2T>A | |
| ENST00000681819.1:c.*615+2T>A | ENSP00000505673.1:n.*615+2T>A | |
| ENST00000681952.1:c.3805+2T>A | ENSP00000506400.1:n.3805+2T>A | |
| ENST00000243344.7:c.3805+2T>A | ENSP00000243344.7:n.3805+2T>A | |
| ENST00000392695.6:c.705+2T>A | ||
| ENST00000497425.1:n.283+2T>A | ||
| NM_024753.4:c.3805+2T>A | NP_079029.3:n.3805+2T>A | |
| XM_011511870.1:c.3238+2T>A | XP_011510172.1:n.3238+2T>A | |
| XM_011511871.1:c.3055+2T>A | XP_011510173.1:n.3055+2T>A | |
| XM_011511871.3:c.3055+2T>A | XP_011510173.1:n.3055+2T>A | |
| XM_011511872.2:c.*1007+2T>A | XP_011510174.1:n.*1007+2T>A | |
| XM_017004967.1:c.3805+2T>A | XP_016860456.1:n.3805+2T>A | |
| XM_017004968.2:c.3151+2T>A | XP_016860457.1:n.3151+2T>A | |
| XM_017004969.1:c.2806+2T>A | XP_016860458.1:n.2806+2T>A | |
| NM_024753.5:c.3805+2T>A MANE Select | NP_079029.3:n.3805+2T>A |