Linked Data
ClinVar Variation Id:
5540
ClinVar RCV Id:
RCV000005878
dbSNP Id:
rs2114592
gnomAD v2:
2-231075206-G-A
gnomAD v3:
2-230210491-G-A
gnomAD v4:
2-230210491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230210491G>A , CM000664.2:g.230210491G>A | GRCh38 |
| NC_000002.11:g.231075206G>A , CM000664.1:g.231075206G>A | GRCh37 |
| NC_000002.10:g.230783450G>A | NCBI36 |
| NG_008295.1:g.14622C>T , LRG_109:g.14622C>T | |
| NG_051286.1:g.12568G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462232.2:c.143-483C>T (SP110) | ENSP00000513566.1:n.143-483C>T | |
| ENST00000489597.2:c.752-483C>T (SP110) | ENSP00000513565.1:n.752-483C>T | |
| ENST00000698099.1:c.752-483C>T (SP110) | ENSP00000513563.1:n.752-483C>T | |
| ENST00000698100.1:c.752-483C>T (SP110) | ENSP00000513564.1:n.752-483C>T | |
| ENST00000698102.1:n.893-483C>T (SP110) | ||
| ENST00000698103.1:c.752-483C>T (SP110) | ENSP00000513567.1:n.752-483C>T | |
| ENST00000698104.1:n.893-483C>T (SP110) | ||
| ENST00000258381.11:c.752-483C>T (SP110) MANE Select | ENSP00000258381.6:n.752-483C>T | |
| ENST00000258382.10:c.752-483C>T (SP110) | ENSP00000258382.5:n.752-483C>T | |
| ENST00000358662.9:c.752-483C>T (SP110) | ENSP00000351488.4:n.752-483C>T | |
| ENST00000540870.5:c.770-483C>T (SP110) | ENSP00000439558.1:n.770-483C>T | |
| ENST00000258381.10:c.752-483C>T (SP110) | ENSP00000258381.6:n.752-483C>T | |
| ENST00000258382.9:c.752-483C>T (SP110) | ENSP00000258382.5:n.752-483C>T | |
| ENST00000358662.8:c.752-483C>T (SP110) | ENSP00000351488.4:n.752-483C>T | |
| ENST00000392048.7:c.752-483C>T (SP110) | ENSP00000375902.3:n.752-483C>T | |
| ENST00000441657.1:n.71-3163G>A (SP140) | ||
| ENST00000456542.5:c.-322-3163G>A (SP140) | ENSP00000475284.1:n.-322-3163G>A | |
| ENST00000486146.2:n.314-483C>T (SP110) | ||
| ENST00000490880.5:n.79-483C>T (SP110) | ||
| ENST00000540870.4:c.770-483C>T | ENSP00000439558.1:n.770-483C>T | |
| NM_001185015.1:c.770-483C>T (SP110) | NP_001171944.1:n.770-483C>T | |
| NM_004509.3:c.752-483C>T (SP110) | NP_004500.3:n.752-483C>T | |
| NM_004510.3:c.752-483C>T (SP110) | NP_004501.3:n.752-483C>T | |
| NM_080424.2:c.752-483C>T , LRG_109t1:c.752-483C>T (SP110) | NP_536349.2:n.752-483C>T | |
| XM_005246525.2:c.770-483C>T (SP110) | XP_005246582.1:n.770-483C>T | |
| XM_006712487.2:c.770-483C>T (SP110) | XP_006712550.1:n.770-483C>T | |
| XM_006712489.2:c.770-483C>T (SP110) | XP_006712552.1:n.770-483C>T | |
| XM_011510517.1:c.-233-3163G>A (SP140) | XP_011508819.1:n.-233-3163G>A | |
| XM_011511088.1:c.770-483C>T (SP110) | XP_011509390.1:n.770-483C>T | |
| XM_011511089.1:c.752-483C>T (SP110) | XP_011509391.1:n.752-483C>T | |
| XM_011511090.1:c.770-483C>T (SP110) | XP_011509392.1:n.770-483C>T | |
| XM_011511091.1:c.770-483C>T (SP110) | XP_011509393.1:n.770-483C>T | |
| XM_011511092.1:c.143-483C>T (SP110) | XP_011509394.1:n.143-483C>T | |
| XM_005246525.4:c.770-483C>T (SP110) | XP_005246582.1:n.770-483C>T | |
| XM_006712487.3:c.770-483C>T (SP110) | XP_006712550.1:n.770-483C>T | |
| XM_006712489.4:c.770-483C>T (SP110) | XP_006712552.1:n.770-483C>T | |
| XM_011510517.3:c.-233-3163G>A (SP140) | XP_011508819.1:n.-233-3163G>A | |
| XM_011511088.3:c.770-483C>T (SP110) | XP_011509390.1:n.770-483C>T | |
| XM_011511089.3:c.752-483C>T (SP110) | XP_011509391.1:n.752-483C>T | |
| XM_011511090.3:c.770-483C>T (SP110) | XP_011509392.1:n.770-483C>T | |
| XM_011511091.3:c.770-483C>T (SP110) | XP_011509393.1:n.770-483C>T | |
| XM_011511092.3:c.143-483C>T (SP110) | XP_011509394.1:n.143-483C>T | |
| XM_017003968.2:c.770-483C>T (SP110) | XP_016859457.1:n.770-483C>T | |
| XM_017003969.1:c.770-483C>T (SP110) | XP_016859458.1:n.770-483C>T | |
| XM_024452850.1:c.770-483C>T (SP110) | XP_024308618.1:n.770-483C>T | |
| XM_024452851.1:c.752-483C>T (SP110) | XP_024308619.1:n.752-483C>T | |
| NM_001185015.2:c.770-483C>T (SP110) | NP_001171944.1:n.770-483C>T | |
| NM_004509.4:c.752-483C>T (SP110) | NP_004500.4:n.752-483C>T | |
| NM_004510.4:c.752-483C>T (SP110) | NP_004501.4:n.752-483C>T | |
| NM_080424.3:c.752-483C>T (SP110) | NP_536349.3:n.752-483C>T | |
| NM_001378442.1:c.770-483C>T (SP110) | NP_001365371.1:n.770-483C>T | |
| NM_001378443.1:c.752-483C>T (SP110) | NP_001365372.1:n.752-483C>T | |
| NM_001378444.1:c.770-483C>T (SP110) | NP_001365373.1:n.770-483C>T | |
| NM_001378445.1:c.770-483C>T (SP110) | NP_001365374.1:n.770-483C>T | |
| NM_001378446.1:c.770-483C>T (SP110) | NP_001365375.1:n.770-483C>T | |
| NM_001378447.1:c.752-483C>T (SP110) | NP_001365376.1:n.752-483C>T | |
| NM_004509.5:c.752-483C>T (SP110) | NP_004500.4:n.752-483C>T | |
| NM_080424.4:c.752-483C>T (SP110) MANE Select | NP_536349.3:n.752-483C>T |