Linked Data
ClinVar Variation Id:
385242
ClinVar RCV Id:
RCV001113216
dbSNP Id:
rs144930749
ExAC:
12:124197243 G / A
gnomAD v2:
12-124197243-G-A
gnomAD v3:
12-123712696-G-A
gnomAD v4:
12-123712696-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123712696G>A , CM000674.2:g.123712696G>A | GRCh38 |
| NC_000012.11:g.124197243G>A , CM000674.1:g.124197243G>A | GRCh37 |
| NC_000012.10:g.122763196G>A | NCBI36 |
| NG_012743.1:g.5379G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.117+14G>A MANE Select | ENSP00000332247.2:n.117+14G>A | |
| ENST00000540368.6:n.148+14G>A | ||
| ENST00000613625.5:c.117+14G>A | ENSP00000482236.1:n.117+14G>A | |
| ENST00000675344.1:c.117+14G>A | ENSP00000501953.1:n.117+14G>A | |
| ENST00000676034.1:n.100+14G>A | ||
| ENST00000330342.7:c.117+14G>A | ENSP00000332247.2:n.117+14G>A | |
| ENST00000540368.5:n.327+14G>A | ||
| ENST00000613625.4:c.117+14G>A | ENSP00000482236.1:n.117+14G>A | |
| NM_012463.3:c.117+14G>A | NP_036595.2:n.117+14G>A | |
| XM_005253563.1:c.117+14G>A | XP_005253620.1:n.117+14G>A | |
| XR_429088.1:n.280+14G>A | ||
| XR_945477.1:n.3202C>T | ||
| XR_945478.1:n.2950C>T | ||
| XR_945479.1:n.3092C>T | ||
| XM_024448910.1:c.117+14G>A | XP_024304678.1:n.117+14G>A | |
| NM_012463.4:c.117+14G>A MANE Select | NP_036595.2:n.117+14G>A |