Linked Data
dbSNP Id:
rs767236581
ExAC:
1:196965123 T / G
gnomAD v2:
1-196965123-T-G
gnomAD v4:
1-196995993-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995993T>G , CM000663.2:g.196995993T>G | GRCh38 |
| NC_000001.10:g.196965123T>G , CM000663.1:g.196965123T>G | GRCh37 |
| NC_000001.9:g.195231746T>G | NCBI36 |
| NG_016365.1:g.23457T>G , LRG_227:g.23457T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.536-29T>G | ENSP00000514393.1:n.536-29T>G | |
| ENST00000699467.1:n.860-29T>G | ||
| ENST00000699468.1:c.-24-121T>G | ENSP00000514394.1:n.-24-121T>G | |
| ENST00000256785.5:c.791-29T>G MANE Select | ENSP00000256785.4:n.791-29T>G | |
| ENST00000256785.4:c.791-29T>G | ENSP00000256785.4:n.791-29T>G | |
| NM_030787.3:c.791-29T>G , LRG_227t1:c.791-29T>G | NP_110414.1:n.791-29T>G | |
| XM_011510020.1:c.800-29T>G | XP_011508322.1:n.800-29T>G | |
| XM_011510020.2:c.800-29T>G | XP_011508322.1:n.800-29T>G | |
| NM_030787.4:c.791-29T>G MANE Select | NP_110414.1:n.791-29T>G |