Linked Data
dbSNP Id:
rs13003464
gnomAD v2:
2-61186829-A-G
gnomAD v3:
2-60959694-A-G
gnomAD v4:
2-60959694-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60959694A>G , CM000664.2:g.60959694A>G | GRCh38 |
| NC_000002.11:g.61186829A>G , CM000664.1:g.61186829A>G | GRCh37 |
| NC_000002.10:g.61040333A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316752.11:c.1000+698T>C MANE Select | ENSP00000326003.6:n.1000+698T>C | |
| ENST00000316752.10:c.1000+698T>C | ENSP00000326003.6:n.1000+698T>C | |
| ENST00000407787.5:c.1000+698T>C | ENSP00000386074.1:n.1000+698T>C | |
| ENST00000602599.1:n.3603+698T>C | ||
| NM_144709.2:c.1000+698T>C | NP_653310.2:n.1000+698T>C | |
| XM_006711952.2:c.1000+698T>C | XP_006712015.1:n.1000+698T>C | |
| XM_011532568.1:c.1000+698T>C | XP_011530870.1:n.1000+698T>C | |
| XM_011532569.1:c.1000+698T>C | XP_011530871.1:n.1000+698T>C | |
| XM_011532570.1:c.1000+698T>C | XP_011530872.1:n.1000+698T>C | |
| XM_011532571.1:c.1000+698T>C | XP_011530873.1:n.1000+698T>C | |
| XM_011532572.1:c.1000+698T>C | XP_011530874.1:n.1000+698T>C | |
| XM_011532573.1:c.1000+698T>C | XP_011530875.1:n.1000+698T>C | |
| XM_011532574.1:c.1000+698T>C | XP_011530876.1:n.1000+698T>C | |
| XM_011532575.1:c.1000+698T>C | XP_011530877.1:n.1000+698T>C | |
| XM_011532576.1:c.1000+698T>C | XP_011530878.1:n.1000+698T>C | |
| XM_011532577.1:c.1000+698T>C | XP_011530879.1:n.1000+698T>C | |
| XM_011532578.1:c.811+698T>C | XP_011530880.1:n.811+698T>C | |
| NM_001322123.1:c.1000+698T>C | NP_001309052.1:n.1000+698T>C | |
| NM_001322124.1:c.1000+698T>C | NP_001309053.1:n.1000+698T>C | |
| NM_001322127.1:c.331+698T>C | NP_001309056.1:n.331+698T>C | |
| NM_144709.3:c.1000+698T>C | NP_653310.2:n.1000+698T>C | |
| XM_011532568.3:c.1000+698T>C | XP_011530870.1:n.1000+698T>C | |
| XM_011532570.2:c.1000+698T>C | XP_011530872.1:n.1000+698T>C | |
| XM_011532571.2:c.1000+698T>C | XP_011530873.1:n.1000+698T>C | |
| XM_011532573.3:c.1000+698T>C | XP_011530875.1:n.1000+698T>C | |
| XM_011532574.3:c.1000+698T>C | XP_011530876.1:n.1000+698T>C | |
| XM_011532576.3:c.1000+698T>C | XP_011530878.1:n.1000+698T>C | |
| XM_011532578.2:c.811+698T>C | XP_011530880.1:n.811+698T>C | |
| XM_017003428.2:c.745+698T>C | XP_016858917.1:n.745+698T>C | |
| XM_017003429.2:c.745+698T>C | XP_016858918.1:n.745+698T>C | |
| XM_024452720.1:c.1000+698T>C | XP_024308488.1:n.1000+698T>C | |
| NM_144709.4:c.1000+698T>C MANE Select | NP_653310.2:n.1000+698T>C |