Linked Data
dbSNP Id:
rs747181287
ExAC:
5:13769283 G / A
gnomAD v3:
5-13769174-G-A
gnomAD v4:
5-13769174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769174G>A , CM000667.2:g.13769174G>A | GRCh38 |
| NC_000005.9:g.13769283G>A , CM000667.1:g.13769283G>A | GRCh37 |
| NC_000005.8:g.13822283G>A | NCBI36 |
| NG_013081.1:g.180307C>T | |
| NG_013081.2:g.180307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9721-38C>T MANE Select | ENSP00000265104.4:n.9721-38C>T | |
| ENST00000681290.1:c.9676-38C>T | ENSP00000505288.1:n.9676-38C>T | |
| ENST00000265104.4:c.9721-38C>T | ENSP00000265104.4:n.9721-38C>T | |
| ENST00000504001.3:n.433-38C>T | ||
| NM_001369.2:c.9721-38C>T | NP_001360.1:n.9721-38C>T | |
| XM_005248262.2:c.9676-38C>T | XP_005248319.1:n.9676-38C>T | |
| XM_005248262.3:c.9829-38C>T | XP_005248319.2:n.9829-38C>T | |
| XM_017009177.1:c.9829-38C>T | XP_016864666.1:n.9829-38C>T | |
| XM_017009178.1:c.8734-38C>T | XP_016864667.1:n.8734-38C>T | |
| XM_017009179.2:c.8734-38C>T | XP_016864668.1:n.8734-38C>T | |
| XM_017009180.1:c.9829-38C>T | XP_016864669.1:n.9829-38C>T | |
| XM_017009181.1:c.9829-38C>T | XP_016864670.1:n.9829-38C>T | |
| XM_017009182.1:c.9829-38C>T | XP_016864671.1:n.9829-38C>T | |
| XM_017009185.1:c.4918-38C>T | XP_016864674.1:n.4918-38C>T | |
| XM_017009186.1:c.4471-38C>T | XP_016864675.1:n.4471-38C>T | |
| XM_017009188.1:c.3808-38C>T | XP_016864677.1:n.3808-38C>T | |
| XM_024454388.1:c.8734-38C>T | XP_024310156.1:n.8734-38C>T | |
| XM_024454389.1:c.8323-38C>T | XP_024310157.1:n.8323-38C>T | |
| NM_001369.3:c.9721-38C>T MANE Select | NP_001360.1:n.9721-38C>T |