Linked Data
dbSNP Id:
rs756822698
ExAC:
1:203194760 C / A
gnomAD v2:
1-203194760-C-A
gnomAD v4:
1-203225632-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203225632C>A , CM000663.2:g.203225632C>A | GRCh38 |
| NC_000001.10:g.203194760C>A , CM000663.1:g.203194760C>A | GRCh37 |
| NC_000001.9:g.201461383C>A | NCBI36 |
| NG_012867.1:g.9101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.257+37G>T MANE Select | ENSP00000356198.1:n.257+37G>T | |
| ENST00000255427.7:c.257+37G>T | ENSP00000255427.3:n.257+37G>T | |
| ENST00000367229.5:c.257+37G>T | ENSP00000356198.1:n.257+37G>T | |
| ENST00000484834.5:n.4614+37G>T | ||
| ENST00000491855.5:c.257+37G>T | ENSP00000423778.1:n.257+37G>T | |
| ENST00000503786.1:c.257+37G>T | ENSP00000421617.1:n.257+37G>T | |
| ENST00000513472.5:n.453+37G>T | ||
| NM_001256125.1:c.257+37G>T | NP_001243054.2:n.257+37G>T | |
| NM_001270509.1:c.257+37G>T | NP_001257438.1:n.257+37G>T | |
| NM_003465.2:c.257+37G>T | NP_003456.1:n.257+37G>T | |
| NR_045784.1:n.353+37G>T | ||
| NR_045785.1:n.353+37G>T | ||
| XM_011509109.1:c.302+37G>T | XP_011507411.1:n.302+37G>T | |
| XM_011509110.1:c.302+37G>T | XP_011507412.1:n.302+37G>T | |
| XR_921732.1:n.302+37G>T | ||
| NM_003465.3:c.257+37G>T MANE Select | NP_003456.1:n.257+37G>T | |
| NM_001256125.2:c.257+37G>T | NP_001243054.2:n.257+37G>T | |
| NR_045784.2:n.294+37G>T | ||
| NR_045785.2:n.294+37G>T |