Linked Data
dbSNP Id:
rs1373968667
gnomAD v2:
3-79603717-C-A
gnomAD v3:
3-79554567-C-A
gnomAD v4:
3-79554567-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.79554567C>A , CM000665.2:g.79554567C>A | GRCh38 |
| NC_000003.11:g.79603717C>A , CM000665.1:g.79603717C>A | GRCh37 |
| NC_000003.10:g.79686407C>A | NCBI36 |
| NG_011729.1:g.218343G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464233.6:c.88+35257G>T MANE Select | ENSP00000420321.1:n.88+35257G>T | |
| ENST00000464233.5:c.88+35257G>T | ENSP00000420321.1:n.88+35257G>T | |
| ENST00000492990.1:c.89-21458G>T | ENSP00000419915.1:n.89-21458G>T | |
| NM_002941.3:c.88+35257G>T | NP_002932.1:n.88+35257G>T | |
| XM_011533976.1:c.88+35257G>T | XP_011532278.1:n.88+35257G>T | |
| XM_011533977.1:c.88+35257G>T | XP_011532279.1:n.88+35257G>T | |
| XM_011533978.1:c.88+35257G>T | XP_011532280.1:n.88+35257G>T | |
| XM_011533979.1:c.88+35257G>T | XP_011532281.1:n.88+35257G>T | |
| XM_011533980.1:c.88+35257G>T | XP_011532282.1:n.88+35257G>T | |
| XM_011533977.2:c.88+35257G>T | XP_011532279.1:n.88+35257G>T | |
| XM_017006982.1:c.88+35257G>T | XP_016862471.1:n.88+35257G>T | |
| XM_017006984.1:c.88+35257G>T | XP_016862473.1:n.88+35257G>T | |
| NM_002941.4:c.88+35257G>T MANE Select | NP_002932.1:n.88+35257G>T |