Linked Data
dbSNP Id:
rs758577067
ExAC:
1:196965121 A / C
gnomAD v2:
1-196965121-A-C
gnomAD v4:
1-196995991-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995991A>C , CM000663.2:g.196995991A>C | GRCh38 |
| NC_000001.10:g.196965121A>C , CM000663.1:g.196965121A>C | GRCh37 |
| NC_000001.9:g.195231744A>C | NCBI36 |
| NG_016365.1:g.23455A>C , LRG_227:g.23455A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.536-31A>C | ENSP00000514393.1:n.536-31A>C | |
| ENST00000699467.1:n.860-31A>C | ||
| ENST00000699468.1:c.-24-123A>C | ENSP00000514394.1:n.-24-123A>C | |
| ENST00000256785.5:c.791-31A>C MANE Select | ENSP00000256785.4:n.791-31A>C | |
| ENST00000256785.4:c.791-31A>C | ENSP00000256785.4:n.791-31A>C | |
| NM_030787.3:c.791-31A>C , LRG_227t1:c.791-31A>C | NP_110414.1:n.791-31A>C | |
| XM_011510020.1:c.800-31A>C | XP_011508322.1:n.800-31A>C | |
| XM_011510020.2:c.800-31A>C | XP_011508322.1:n.800-31A>C | |
| NM_030787.4:c.791-31A>C MANE Select | NP_110414.1:n.791-31A>C |