Linked Data
ClinVar Variation Id:
533137
dbSNP Id:
rs370135665
ExAC:
12:124235650 C / T
gnomAD v2:
12-124235650-C-T
gnomAD v3:
12-123751103-C-T
gnomAD v4:
12-123751103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123751103C>T , CM000674.2:g.123751103C>T | GRCh38 |
| NC_000012.11:g.124235650C>T , CM000674.1:g.124235650C>T | GRCh37 |
| NC_000012.10:g.122801603C>T | NCBI36 |
| NG_012743.1:g.43786C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.1936-7C>T MANE Select | ENSP00000332247.2:n.1936-7C>T | |
| ENST00000540368.6:n.1967-7C>T | ||
| ENST00000674794.1:c.2024-7C>T | ||
| ENST00000675260.1:n.1211-7C>T | ||
| ENST00000675344.1:c.*957-7C>T | ENSP00000501953.1:n.*957-7C>T | |
| ENST00000330342.7:c.1936-7C>T | ENSP00000332247.2:n.1936-7C>T | |
| ENST00000534943.5:c.-232C>T | ENSP00000443726.1:n.-232C>T | |
| NM_012463.3:c.1936-7C>T | NP_036595.2:n.1936-7C>T | |
| XM_005253563.1:c.1936-1180C>T | XP_005253620.1:n.1936-1180C>T | |
| XM_006719317.2:c.1423-7C>T | XP_006719380.1:n.1423-7C>T | |
| XM_006719318.2:c.1114-7C>T | XP_006719381.1:n.1114-7C>T | |
| XR_429088.1:n.2099-7C>T | ||
| XM_024448910.1:c.1936-1180C>T | XP_024304678.1:n.1936-1180C>T | |
| XM_024448911.1:c.1423-7C>T | XP_024304679.1:n.1423-7C>T | |
| XM_024448912.1:c.1114-7C>T | XP_024304680.1:n.1114-7C>T | |
| NM_012463.4:c.1936-7C>T MANE Select | NP_036595.2:n.1936-7C>T |