Linked Data
dbSNP Id:
rs542673289
gnomAD v2:
9-37432319-C-T
gnomAD v3:
9-37432322-C-T
gnomAD v4:
9-37432322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432322C>T , CM000671.2:g.37432322C>T | GRCh38 |
| NC_000009.11:g.37432319C>T , CM000671.1:g.37432319C>T | GRCh37 |
| NC_000009.10:g.37422319C>T | NCBI36 |
| NG_008135.1:g.14613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.865+184C>T MANE Select | ENSP00000313432.6:n.865+184C>T | |
| ENST00000318158.10:c.865+184C>T | ENSP00000313432.6:n.865+184C>T | |
| ENST00000460882.5:n.892+184C>T | ||
| ENST00000480596.5:n.1566+184C>T | ||
| ENST00000482603.1:n.318+184C>T | ||
| ENST00000491488.5:n.570+184C>T | ||
| ENST00000494290.1:c.*51+1171C>T | ENSP00000432021.1:n.*51+1171C>T | |
| ENST00000497693.1:n.4433+184C>T | ||
| ENST00000512404.2:n.236C>T | ||
| ENST00000607784.1:c.865+184C>T | ENSP00000475569.1:n.865+184C>T | |
| NM_012203.1:c.865+184C>T | NP_036335.1:n.865+184C>T | |
| XM_005251631.1:c.544+184C>T | XP_005251688.1:n.544+184C>T | |
| XM_011518073.1:c.463+184C>T | XP_011516375.1:n.463+184C>T | |
| XM_017015320.2:c.865+184C>T | XP_016870809.1:n.865+184C>T | |
| XM_017015321.2:c.865+184C>T | XP_016870810.1:n.865+184C>T | |
| XM_017015323.2:c.463+184C>T | XP_016870812.1:n.463+184C>T | |
| XM_024447716.1:c.1138+184C>T | XP_024303484.1:n.1138+184C>T | |
| XM_024447717.1:c.1138+184C>T | XP_024303485.1:n.1138+184C>T | |
| XR_002956828.1:n.1153+184C>T | ||
| XR_002956829.1:n.1153+184C>T | ||
| XR_002956830.1:n.2285+184C>T | ||
| XR_002956831.1:n.1960+184C>T | ||
| XR_002956832.1:n.1284+184C>T | ||
| NM_012203.2:c.865+184C>T MANE Select | NP_036335.1:n.865+184C>T |