Linked Data
ClinVar Variation Id:
42265
ClinVar RCV Id:
RCV000035098
dbSNP Id:
rs397515747
PubMed:
PMID:23656970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420657G>A , CM000685.2:g.154420657G>A | GRCh38 |
| NC_000023.10:g.153648996G>A , CM000685.1:g.153648996G>A | GRCh37 |
| NC_000023.9:g.153302190G>A | NCBI36 |
| NG_009634.1:g.14120G>A | |
| NG_009634.2:g.14123G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.1510-1G>A | ||
| ENST00000698317.1:n.2126-1G>A | ||
| ENST00000698318.1:n.1909-1G>A | ||
| ENST00000698319.1:n.1272-1G>A | ||
| ENST00000698320.1:n.1160-1G>A | ||
| ENST00000470127.2:n.1173-1G>A | ||
| ENST00000475699.6:c.664-1G>A | ENSP00000419854.3:n.664-1G>A | |
| ENST00000483674.3:n.582-1G>A | ||
| ENST00000601016.6:c.700-1G>A MANE Select | ENSP00000469981.1:n.700-1G>A | |
| ENST00000612012.5:c.658-1G>A | ENSP00000482070.2:n.658-1G>A | |
| ENST00000612460.5:c.610-1G>A | ENSP00000481037.1:n.610-1G>A | |
| ENST00000614595.2:n.2047-1G>A | ||
| ENST00000615658.5:n.1289-1G>A | ||
| ENST00000616020.5:c.712-1G>A | ENSP00000483636.2:n.712-1G>A | |
| ENST00000617701.5:c.*713-1G>A | ENSP00000481645.1:n.*713-1G>A | |
| ENST00000651139.1:c.-84-1G>A | ENSP00000498957.1:n.-84-1G>A | |
| ENST00000652354.1:c.382-1G>A | ENSP00000498734.1:n.382-1G>A | |
| ENST00000652358.1:c.493-1G>A | ENSP00000498464.1:n.493-1G>A | |
| ENST00000652390.1:c.619-1G>A | ENSP00000498858.1:n.619-1G>A | |
| ENST00000652476.1:n.1366-1G>A | ||
| ENST00000652644.1:c.313-1G>A | ENSP00000498496.1:n.313-1G>A | |
| ENST00000652682.1:c.757-1G>A | ENSP00000498288.1:n.757-1G>A | |
| ENST00000652685.1:n.1053-1G>A | ||
| ENST00000369776.8:c.610-1G>A | ENSP00000358791.4:n.610-1G>A | |
| ENST00000426231.5:c.697-1G>A | ||
| ENST00000475699.5:c.658-1G>A | ENSP00000419854.2:n.658-1G>A | |
| ENST00000494912.5:n.1389-1G>A | ||
| ENST00000498029.1:n.158-1G>A | ||
| ENST00000601016.5:c.700-1G>A | ENSP00000469981.1:n.700-1G>A | |
| ENST00000612460.4:c.610-1G>A | ENSP00000481037.1:n.610-1G>A | |
| ENST00000613002.4:c.568-1G>A | ENSP00000478154.1:n.568-1G>A | |
| ENST00000615986.4:c.*428-1G>A | ENSP00000480133.1:n.*428-1G>A | |
| NM_000116.4:c.700-1G>A | NP_000107.1:n.700-1G>A | |
| NM_001303465.1:c.712-1G>A | NP_001290394.1:n.712-1G>A | |
| NM_181311.3:c.610-1G>A | NP_851828.1:n.610-1G>A | |
| NM_181312.3:c.658-1G>A | NP_851829.1:n.658-1G>A | |
| NM_181313.3:c.568-1G>A | NP_851830.1:n.568-1G>A | |
| NR_024048.2:n.1042-1G>A | ||
| XM_006724836.1:c.754-1G>A | XP_006724899.1:n.754-1G>A | |
| XM_006724837.1:c.739-1G>A | XP_006724900.1:n.739-1G>A | |
| XM_006724839.1:c.622-1G>A | XP_006724902.1:n.622-1G>A | |
| XM_006724841.2:c.493-1G>A | XP_006724904.1:n.493-1G>A | |
| XM_006724842.2:c.403-1G>A | XP_006724905.1:n.403-1G>A | |
| XM_011531189.1:c.541-1G>A | XP_011529491.1:n.541-1G>A | |
| XM_011531190.1:c.493-1G>A | XP_011529492.1:n.493-1G>A | |
| XM_011531191.1:c.424-1G>A | XP_011529493.1:n.424-1G>A | |
| XM_011531192.1:c.421-1G>A | XP_011529494.1:n.421-1G>A | |
| XR_938511.1:n.1048-1G>A | ||
| XM_006724841.4:c.493-1G>A | XP_006724904.1:n.493-1G>A | |
| XM_006724842.4:c.403-1G>A | XP_006724905.1:n.403-1G>A | |
| XM_011531191.2:c.424-1G>A | XP_011529493.1:n.424-1G>A | |
| XM_017029761.1:c.685-1G>A | XP_016885250.1:n.685-1G>A | |
| XM_017029762.1:c.664-1G>A | XP_016885251.1:n.664-1G>A | |
| XM_017029763.1:c.487-1G>A | XP_016885252.1:n.487-1G>A | |
| XM_017029764.1:c.421-1G>A | XP_016885253.1:n.421-1G>A | |
| XM_017029765.2:c.361-1G>A | XP_016885254.1:n.361-1G>A | |
| XM_024452431.1:c.658-1G>A | XP_024308199.1:n.658-1G>A | |
| NM_000116.5:c.700-1G>A MANE Select | NP_000107.1:n.700-1G>A | |
| NM_001303465.2:c.712-1G>A | NP_001290394.1:n.712-1G>A | |
| NM_181311.4:c.610-1G>A | NP_851828.1:n.610-1G>A | |
| NM_181312.4:c.658-1G>A | NP_851829.1:n.658-1G>A | |
| NM_181313.4:c.568-1G>A | NP_851830.1:n.568-1G>A | |
| NR_024048.3:n.1021-1G>A |