Linked Data
dbSNP Id:
rs1180155341
gnomAD v2:
9-71840195-G-C
gnomAD v3:
9-69225279-G-C
gnomAD v4:
9-69225279-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69225279G>C , CM000671.2:g.69225279G>C | GRCh38 |
| NC_000009.11:g.71840195G>C , CM000671.1:g.71840195G>C | GRCh37 |
| NC_000009.10:g.71030015G>C | NCBI36 |
| NG_016342.1:g.108972G>C | |
| NG_016342.2:g.129373G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348208.9:c.953-25G>C | ENSP00000345893.4:n.953-25G>C | |
| ENST00000377245.9:c.953-25G>C MANE Select | ENSP00000366453.4:n.953-25G>C | |
| ENST00000535702.6:c.965-25G>C | ENSP00000442090.1:n.965-25G>C | |
| ENST00000539225.2:c.1046-25G>C | ENSP00000438262.1:n.1046-25G>C | |
| ENST00000636247.1:n.1032-25G>C | ||
| ENST00000636438.1:c.1130-25G>C | ENSP00000489860.1:n.1130-25G>C | |
| ENST00000642889.1:c.1340-25G>C | ENSP00000493780.1:n.1340-25G>C | |
| ENST00000643352.1:c.*1141-25G>C | ENSP00000496488.1:n.*1141-25G>C | |
| ENST00000645088.1:c.*1260-25G>C | ENSP00000495447.1:n.*1260-25G>C | |
| ENST00000647986.1:c.884-25G>C | ENSP00000496877.1:n.884-25G>C | |
| ENST00000648087.1:n.1270-25G>C | ||
| ENST00000648153.1:n.96-25G>C | ||
| ENST00000648862.1:n.165-25G>C | ||
| ENST00000649114.1:c.953-25G>C | ENSP00000497328.1:n.953-25G>C | |
| ENST00000649134.1:c.965-25G>C | ENSP00000498068.1:n.965-25G>C | |
| ENST00000649783.1:n.977-25G>C | ||
| ENST00000649943.1:c.953-25G>C | ENSP00000497539.1:n.953-25G>C | |
| ENST00000650084.1:c.956-25G>C | ENSP00000497861.1:n.956-25G>C | |
| ENST00000650333.1:c.884-25G>C | ENSP00000496791.1:n.884-25G>C | |
| ENST00000650460.1:c.226-25G>C | ||
| ENST00000650522.1:n.976+3783G>C | ||
| ENST00000265384.11:c.953-25G>C | ENSP00000265384.7:n.953-25G>C | |
| ENST00000348208.8:c.953-25G>C | ENSP00000345893.4:n.953-25G>C | |
| ENST00000377245.8:c.953-25G>C | ENSP00000366453.4:n.953-25G>C | |
| ENST00000453658.6:c.884-25G>C | ENSP00000392178.2:n.884-25G>C | |
| ENST00000535702.5:c.965-25G>C | ENSP00000442090.1:n.965-25G>C | |
| ENST00000539225.1:c.1046-25G>C | ENSP00000438262.1:n.1046-25G>C | |
| NM_001170414.2:c.884-25G>C | NP_001163885.1:n.884-25G>C | |
| NM_001170415.1:c.965-25G>C | NP_001163886.1:n.965-25G>C | |
| NM_001170416.1:c.1046-25G>C | NP_001163887.1:n.1046-25G>C | |
| NM_001170630.1:c.953-25G>C | NP_001164101.1:n.953-25G>C | |
| NM_004817.3:c.953-25G>C | NP_004808.2:n.953-25G>C | |
| NM_201629.3:c.953-25G>C | NP_963923.1:n.953-25G>C | |
| XM_005252314.1:c.965-25G>C | XP_005252371.1:n.965-25G>C | |
| XM_006717324.2:c.947-25G>C | XP_006717387.1:n.947-25G>C | |
| XM_011519204.1:c.884-25G>C | XP_011517506.1:n.884-25G>C | |
| XM_011519205.1:c.884-25G>C | XP_011517507.1:n.884-25G>C | |
| XM_011519206.1:c.884-25G>C | XP_011517508.1:n.884-25G>C | |
| XM_011519207.1:c.884-25G>C | XP_011517509.1:n.884-25G>C | |
| XM_011519208.1:c.884-25G>C | XP_011517510.1:n.884-25G>C | |
| XM_011519209.1:c.884-25G>C | XP_011517511.1:n.884-25G>C | |
| NM_004817.4:c.953-25G>C MANE Select | NP_004808.2:n.953-25G>C | |
| XM_005252314.2:c.965-25G>C | XP_005252371.1:n.965-25G>C | |
| XM_011519206.2:c.884-25G>C | XP_011517508.1:n.884-25G>C | |
| XM_011519207.2:c.884-25G>C | XP_011517509.1:n.884-25G>C | |
| XM_011519208.2:c.884-25G>C | XP_011517510.1:n.884-25G>C | |
| XM_011519209.2:c.884-25G>C | XP_011517511.1:n.884-25G>C | |
| XM_017015327.2:c.953-25G>C | XP_016870816.1:n.953-25G>C | |
| XM_017015328.1:c.965-25G>C | XP_016870817.1:n.965-25G>C | |
| NM_001170416.2:c.1046-25G>C | NP_001163887.1:n.1046-25G>C | |
| NM_001369870.1:c.884-25G>C | NP_001356799.1:n.884-25G>C | |
| NM_001369871.1:c.884-25G>C | NP_001356800.1:n.884-25G>C | |
| NM_001369872.1:c.953-25G>C | NP_001356801.1:n.953-25G>C | |
| NM_001369873.1:c.953-25G>C | NP_001356802.1:n.953-25G>C | |
| NM_001369874.1:c.965-25G>C | NP_001356803.1:n.965-25G>C | |
| NM_001369875.1:c.965-25G>C | NP_001356804.1:n.965-25G>C |