Linked Data
dbSNP Id:
rs749942988
gnomAD v2:
3-79603820-A-C
gnomAD v3:
3-79554670-A-C
gnomAD v4:
3-79554670-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.79554670A>C , CM000665.2:g.79554670A>C | GRCh38 |
| NC_000003.11:g.79603820A>C , CM000665.1:g.79603820A>C | GRCh37 |
| NC_000003.10:g.79686510A>C | NCBI36 |
| NG_011729.1:g.218240T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464233.6:c.88+35154T>G MANE Select | ENSP00000420321.1:n.88+35154T>G | |
| ENST00000464233.5:c.88+35154T>G | ENSP00000420321.1:n.88+35154T>G | |
| ENST00000492990.1:c.89-21561T>G | ENSP00000419915.1:n.89-21561T>G | |
| NM_002941.3:c.88+35154T>G | NP_002932.1:n.88+35154T>G | |
| XM_011533976.1:c.88+35154T>G | XP_011532278.1:n.88+35154T>G | |
| XM_011533977.1:c.88+35154T>G | XP_011532279.1:n.88+35154T>G | |
| XM_011533978.1:c.88+35154T>G | XP_011532280.1:n.88+35154T>G | |
| XM_011533979.1:c.88+35154T>G | XP_011532281.1:n.88+35154T>G | |
| XM_011533980.1:c.88+35154T>G | XP_011532282.1:n.88+35154T>G | |
| XM_011533977.2:c.88+35154T>G | XP_011532279.1:n.88+35154T>G | |
| XM_017006982.1:c.88+35154T>G | XP_016862471.1:n.88+35154T>G | |
| XM_017006984.1:c.88+35154T>G | XP_016862473.1:n.88+35154T>G | |
| NM_002941.4:c.88+35154T>G MANE Select | NP_002932.1:n.88+35154T>G |