Linked Data
ClinVar Variation Id:
95526
ClinVar RCV Id:
RCV000180309
dbSNP Id:
rs398124257
gnomAD v4:
12-123735626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123735626T>C , CM000674.2:g.123735626T>C | GRCh38 |
| NC_000012.11:g.124220173T>C , CM000674.1:g.124220173T>C | GRCh37 |
| NC_000012.10:g.122786126T>C | NCBI36 |
| NG_012743.1:g.28309T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.825+2T>C MANE Select | ENSP00000332247.2:n.825+2T>C | |
| ENST00000540368.6:n.856+2T>C | ||
| ENST00000613625.5:c.825+2T>C | ENSP00000482236.1:n.825+2T>C | |
| ENST00000674794.1:c.265+2T>C | ||
| ENST00000675344.1:c.825+2T>C | ENSP00000501953.1:n.825+2T>C | |
| ENST00000330342.7:c.825+2T>C | ENSP00000332247.2:n.825+2T>C | |
| ENST00000504192.2:c.435+2T>C | ENSP00000443441.1:n.435+2T>C | |
| ENST00000540368.5:n.1035+2T>C | ||
| ENST00000545059.5:n.3461+2T>C | ||
| ENST00000613625.4:c.825+2T>C | ENSP00000482236.1:n.825+2T>C | |
| NM_012463.3:c.825+2T>C | NP_036595.2:n.825+2T>C | |
| XM_005253563.1:c.825+2T>C | XP_005253620.1:n.825+2T>C | |
| XM_006719317.2:c.312+2T>C | XP_006719380.1:n.312+2T>C | |
| XR_429088.1:n.988+2T>C | ||
| XM_024448910.1:c.825+2T>C | XP_024304678.1:n.825+2T>C | |
| XM_024448911.1:c.312+2T>C | XP_024304679.1:n.312+2T>C | |
| NM_012463.4:c.825+2T>C MANE Select | NP_036595.2:n.825+2T>C |