Linked Data
dbSNP Id:
rs994497091
gnomAD v2:
17-73520688-C-T
gnomAD v3:
17-75524607-C-T
gnomAD v4:
17-75524607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524607C>T , CM000679.2:g.75524607C>T | GRCh38 |
| NC_000017.10:g.73520688C>T , CM000679.1:g.73520688C>T | GRCh37 |
| NC_000017.9:g.71032283C>T | NCBI36 |
| NG_013041.1:g.13080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.*195C>T MANE Select | ENSP00000327487.6:n.*195C>T | |
| ENST00000434205.8:c.*195C>T | ENSP00000406559.4:n.*195C>T | |
| ENST00000545228.3:c.*275C>T | ENSP00000438169.3:n.*275C>T | |
| ENST00000577197.2:n.974C>T | ||
| ENST00000579449.2:n.2516C>T | ||
| ENST00000580013.6:n.2920C>T | ||
| ENST00000679370.1:n.3298C>T | ||
| ENST00000679429.1:c.*1234C>T | ENSP00000505403.1:n.*1234C>T | |
| ENST00000679443.1:n.1845C>T | ||
| ENST00000679782.1:c.*475C>T | ENSP00000505995.1:n.*475C>T | |
| ENST00000679919.1:n.2047C>T | ||
| ENST00000679928.1:c.*2328C>T | ENSP00000506071.1:n.*2328C>T | |
| ENST00000680999.1:c.*195C>T | ENSP00000504984.1:n.*195C>T | |
| ENST00000681282.1:c.*1963C>T | ENSP00000506339.1:n.*1963C>T | |
| ENST00000333213.10:c.*195C>T | ENSP00000327487.6:n.*195C>T | |
| ENST00000545228.2:c.1053C>T | ||
| ENST00000577197.1:n.524C>T | ||
| NM_207346.2:c.*195C>T | NP_997229.2:n.*195C>T | |
| XM_005257229.2:c.*275C>T | XP_005257286.1:n.*275C>T | |
| XM_006721821.2:c.*275C>T | XP_006721884.1:n.*275C>T | |
| XM_011524616.1:c.*275C>T | XP_011522918.1:n.*275C>T | |
| XM_011524618.1:c.*195C>T | XP_011522920.1:n.*195C>T | |
| XR_243646.2:n.2008C>T | ||
| XM_005257229.4:c.*275C>T | XP_005257286.1:n.*275C>T | |
| XR_243646.4:n.2014C>T | ||
| NM_207346.3:c.*195C>T MANE Select | NP_997229.2:n.*195C>T |