Linked Data
ClinVar Variation Id:
11112
ClinVar RCV Id:
RCV000011861
dbSNP Id:
rs587776741
PubMed:
PMID:12468278
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420211G>C , CM000685.2:g.154420211G>C | GRCh38 |
| NC_000023.10:g.153648550G>C , CM000685.1:g.153648550G>C | GRCh37 |
| NC_000023.9:g.153301744G>C | NCBI36 |
| NG_009634.1:g.13674G>C | |
| NG_009634.2:g.13677G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.1457-1G>C | ||
| ENST00000698317.1:n.2073-1G>C | ||
| ENST00000698318.1:n.1856-1G>C | ||
| ENST00000698319.1:n.1219-1G>C | ||
| ENST00000698320.1:n.1107-1G>C | ||
| ENST00000470127.2:n.1120-1G>C | ||
| ENST00000475699.6:c.611-1G>C | ENSP00000419854.3:n.611-1G>C | |
| ENST00000483674.3:n.529-1G>C | ||
| ENST00000601016.6:c.647-1G>C MANE Select | ENSP00000469981.1:n.647-1G>C | |
| ENST00000612012.5:c.605-1G>C | ENSP00000482070.2:n.605-1G>C | |
| ENST00000612460.5:c.557-1G>C | ENSP00000481037.1:n.557-1G>C | |
| ENST00000614595.2:n.1994-1G>C | ||
| ENST00000615658.5:n.1236-1G>C | ||
| ENST00000616020.5:c.659-1G>C | ENSP00000483636.2:n.659-1G>C | |
| ENST00000617701.5:c.*660-1G>C | ENSP00000481645.1:n.*660-1G>C | |
| ENST00000652354.1:c.329-1G>C | ENSP00000498734.1:n.329-1G>C | |
| ENST00000652358.1:c.440-1G>C | ENSP00000498464.1:n.440-1G>C | |
| ENST00000652390.1:c.566-1G>C | ENSP00000498858.1:n.566-1G>C | |
| ENST00000652476.1:n.1313-1G>C | ||
| ENST00000652644.1:c.260-1G>C | ENSP00000498496.1:n.260-1G>C | |
| ENST00000652682.1:c.704-1G>C | ENSP00000498288.1:n.704-1G>C | |
| ENST00000652685.1:n.1000-1G>C | ||
| ENST00000369776.8:c.556G>C | ENSP00000358791.4:p.Gly186Arg | |
| ENST00000426231.5:c.644-1G>C | ||
| ENST00000475699.5:c.605-1G>C | ENSP00000419854.2:n.605-1G>C | |
| ENST00000494912.5:n.1336-1G>C | ||
| ENST00000498029.1:n.105-1G>C | ||
| ENST00000601016.5:c.647-1G>C | ENSP00000469981.1:n.647-1G>C | |
| ENST00000612460.4:c.557-1G>C | ENSP00000481037.1:n.557-1G>C | |
| ENST00000613002.4:c.515-1G>C | ENSP00000478154.1:n.515-1G>C | |
| ENST00000615986.4:c.*375-1G>C | ENSP00000480133.1:n.*375-1G>C | |
| NM_000116.4:c.647-1G>C | NP_000107.1:n.647-1G>C | |
| NM_001303465.1:c.659-1G>C | NP_001290394.1:n.659-1G>C | |
| NM_181311.3:c.557-1G>C | NP_851828.1:n.557-1G>C | |
| NM_181312.3:c.605-1G>C | NP_851829.1:n.605-1G>C | |
| NM_181313.3:c.515-1G>C | NP_851830.1:n.515-1G>C | |
| NR_024048.2:n.989-1G>C | ||
| XM_006724836.1:c.701-1G>C | XP_006724899.1:n.701-1G>C | |
| XM_006724837.1:c.685G>C | XP_006724900.1:p.Gly229Arg | |
| XM_006724839.1:c.569-1G>C | XP_006724902.1:n.569-1G>C | |
| XM_006724841.2:c.440-1G>C | XP_006724904.1:n.440-1G>C | |
| XM_006724842.2:c.350-1G>C | XP_006724905.1:n.350-1G>C | |
| XM_011531189.1:c.488-1G>C | XP_011529491.1:n.488-1G>C | |
| XM_011531190.1:c.440-1G>C | XP_011529492.1:n.440-1G>C | |
| XM_011531191.1:c.371-1G>C | XP_011529493.1:n.371-1G>C | |
| XM_011531192.1:c.368-1G>C | XP_011529494.1:n.368-1G>C | |
| XR_938511.1:n.995-1G>C | ||
| XM_006724841.4:c.440-1G>C | XP_006724904.1:n.440-1G>C | |
| XM_006724842.4:c.350-1G>C | XP_006724905.1:n.350-1G>C | |
| XM_011531191.2:c.371-1G>C | XP_011529493.1:n.371-1G>C | |
| XM_017029761.1:c.631G>C | XP_016885250.1:p.Gly211Arg | |
| XM_017029762.1:c.611-1G>C | XP_016885251.1:n.611-1G>C | |
| XM_017029763.1:c.434-1G>C | XP_016885252.1:n.434-1G>C | |
| XM_017029764.1:c.368-1G>C | XP_016885253.1:n.368-1G>C | |
| XM_017029765.2:c.308-1G>C | XP_016885254.1:n.308-1G>C | |
| XM_024452431.1:c.604G>C | XP_024308199.1:p.Gly202Arg | |
| NM_000116.5:c.647-1G>C MANE Select | NP_000107.1:n.647-1G>C | |
| NM_001303465.2:c.659-1G>C | NP_001290394.1:n.659-1G>C | |
| NM_181311.4:c.557-1G>C | NP_851828.1:n.557-1G>C | |
| NM_181312.4:c.605-1G>C | NP_851829.1:n.605-1G>C | |
| NM_181313.4:c.515-1G>C | NP_851830.1:n.515-1G>C | |
| NR_024048.3:n.968-1G>C |