Linked Data
dbSNP Id:
rs188043096
ExAC:
12:94244064 C / T
gnomAD v2:
12-94244064-C-T
gnomAD v3:
12-93850288-C-T
gnomAD v4:
12-93850288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93850288C>T , CM000674.2:g.93850288C>T | GRCh38 |
| NC_000012.11:g.94244064C>T , CM000674.1:g.94244064C>T | GRCh37 |
| NC_000012.10:g.92768195C>T | NCBI36 |
| NG_032159.1:g.177914C>T | |
| NG_032159.2:g.177914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332896.8:c.*17C>T MANE Select | ENSP00000327647.3:n.*17C>T | |
| ENST00000332896.7:c.*17C>T | ENSP00000327647.3:n.*17C>T | |
| ENST00000542893.2:c.*17C>T | ENSP00000439068.2:n.*17C>T | |
| ENST00000548330.1:n.1002C>T | ||
| ENST00000548483.5:c.299-43762C>T | ENSP00000448685.1:n.299-43762C>T | |
| ENST00000550030.1:n.417C>T | ||
| ENST00000551065.5:c.299-9031C>T | ENSP00000448425.1:n.299-9031C>T | |
| ENST00000609189.1:n.393C>T | ||
| NM_003805.3:c.*17C>T | NP_003796.1:n.*17C>T | |
| XM_005269211.3:c.299-43762C>T | XP_005269268.1:n.299-43762C>T | |
| NM_001320099.1:c.*17C>T | NP_001307028.1:n.*17C>T | |
| NM_001320100.1:c.299-43762C>T | NP_001307029.1:n.299-43762C>T | |
| NM_003805.4:c.*17C>T | NP_003796.1:n.*17C>T | |
| NR_135147.1:n.407-9031C>T | ||
| XM_017020144.1:c.299-9031C>T | XP_016875633.1:n.299-9031C>T | |
| XR_001748910.1:n.430-9031C>T | ||
| NM_003805.5:c.*17C>T MANE Select | NP_003796.1:n.*17C>T | |
| NM_001320099.2:c.*17C>T | NP_001307028.1:n.*17C>T | |
| NM_001320100.2:c.299-43762C>T | NP_001307029.1:n.299-43762C>T | |
| NR_135147.2:n.403-9031C>T |