Linked Data
ClinVar Variation Id:
97562
ClinVar RCV Id:
RCV000083814
dbSNP Id:
rs104895362
ExAC:
12:110032987 G / T
gnomAD v2:
12-110032987-G-T
gnomAD v3:
12-109595182-G-T
gnomAD v4:
12-109595182-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109595182G>T , CM000674.2:g.109595182G>T | GRCh38 |
| NC_000012.11:g.110032987G>T , CM000674.1:g.110032987G>T | GRCh37 |
| NC_000012.10:g.108517370G>T | NCBI36 |
| NG_007702.1:g.26488G>T , LRG_156:g.26488G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.196+1G>T | ENSP00000439134.1:n.196+1G>T | |
| ENST00000546277.6:c.1039+1G>T | ENSP00000438153.2:n.1039+1G>T | |
| ENST00000636529.2:n.678+1G>T | ||
| ENST00000697195.1:c.*803+1G>T | ENSP00000513181.1:n.*803+1G>T | |
| ENST00000697196.1:c.*212+1G>T | ENSP00000513182.1:n.*212+1G>T | |
| ENST00000697197.1:n.3068+1G>T | ||
| ENST00000697198.1:n.1423+1G>T | ||
| ENST00000228510.8:c.1039+1G>T MANE Select | ENSP00000228510.3:n.1039+1G>T | |
| ENST00000636529.1:c.664+1G>T | ||
| ENST00000636996.1:c.887+1G>T | ||
| ENST00000228510.7:c.1039+1G>T | ENSP00000228510.3:n.1039+1G>T | |
| ENST00000392727.7:c.883+1G>T | ENSP00000376487.3:n.883+1G>T | |
| ENST00000447878.6:c.*486+1G>T | ENSP00000415555.2:n.*486+1G>T | |
| ENST00000537237.5:c.*712+1G>T | ENSP00000445382.1:n.*712+1G>T | |
| ENST00000539575.4:c.1039+1G>T | ENSP00000443551.2:n.1039+1G>T | |
| ENST00000539696.5:c.196+1G>T | ENSP00000439134.1:n.196+1G>T | |
| ENST00000540353.1:n.3272+1G>T | ||
| ENST00000625889.2:c.883+1G>T | ENSP00000486846.1:n.883+1G>T | |
| ENST00000629016.2:c.*486+1G>T | ENSP00000486804.1:n.*486+1G>T | |
| NM_000431.3:c.1039+1G>T | NP_000422.1:n.1039+1G>T | |
| NM_001114185.2:c.1039+1G>T | NP_001107657.1:n.1039+1G>T | |
| NM_001301182.1:c.883+1G>T | NP_001288111.1:n.883+1G>T | |
| XM_011538372.1:c.1039+1G>T | XP_011536674.1:n.1039+1G>T | |
| XM_017019313.2:c.883+1G>T | XP_016874802.1:n.883+1G>T | |
| XM_017019314.1:c.1039+1G>T | XP_016874803.1:n.1039+1G>T | |
| NM_000431.4:c.1039+1G>T MANE Select | NP_000422.1:n.1039+1G>T | |
| NM_001114185.3:c.1039+1G>T | NP_001107657.1:n.1039+1G>T | |
| NM_001301182.2:c.883+1G>T | NP_001288111.1:n.883+1G>T |