Linked Data
dbSNP Id:
rs10857561
gnomAD v2:
10-49608638-G-A
gnomAD v3:
10-48400595-G-A
gnomAD v4:
10-48400595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.48400595G>A , CM000672.2:g.48400595G>A | GRCh38 |
| NC_000010.10:g.49608638G>A , CM000672.1:g.49608638G>A | GRCh37 |
| NC_000010.9:g.49278644G>A | NCBI36 |
| NG_029053.2:g.98957G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374189.6:c.-49-1017G>A MANE Select | ENSP00000363304.1:n.-49-1017G>A | |
| ENST00000374179.8:c.-49-1017G>A | ENSP00000363294.3:n.-49-1017G>A | |
| ENST00000429041.6:c.-49-1017G>A | ENSP00000393223.2:n.-49-1017G>A | |
| ENST00000374189.5:c.-49-1017G>A | ENSP00000363304.1:n.-49-1017G>A | |
| ENST00000395611.7:c.-49-1017G>A | ENSP00000378974.4:n.-49-1017G>A | |
| ENST00000426557.5:c.-49-1017G>A | ENSP00000397729.1:n.-49-1017G>A | |
| ENST00000429041.5:c.-168-1017G>A | ENSP00000393223.1:n.-168-1017G>A | |
| ENST00000432379.5:c.-49-1017G>A | ENSP00000387936.1:n.-49-1017G>A | |
| ENST00000476134.1:n.74-1017G>A | ||
| NM_001278547.1:c.-49-1017G>A | NP_001265476.1:n.-49-1017G>A | |
| XM_011539953.1:c.-49-1017G>A | XP_011538255.1:n.-49-1017G>A | |
| XM_011539954.1:c.-49-1017G>A | XP_011538256.1:n.-49-1017G>A | |
| XM_011539955.1:c.-49-1017G>A | XP_011538257.1:n.-49-1017G>A | |
| XM_011539956.1:c.-49-1017G>A | XP_011538258.1:n.-49-1017G>A | |
| XM_011539957.1:c.-49-1017G>A | XP_011538259.1:n.-49-1017G>A | |
| XM_011539958.1:c.-49-1017G>A | XP_011538260.1:n.-49-1017G>A | |
| NM_001323302.1:c.-49-1017G>A | NP_001310231.1:n.-49-1017G>A | |
| NM_001323320.1:c.-49-1017G>A | NP_001310249.1:n.-49-1017G>A | |
| NM_001323321.1:c.-49-1017G>A | NP_001310250.1:n.-49-1017G>A | |
| NM_001323322.1:c.-49-1017G>A | NP_001310251.1:n.-49-1017G>A | |
| NM_001323323.1:c.-49-1017G>A | NP_001310252.1:n.-49-1017G>A | |
| NM_001323324.1:c.-49-1017G>A | NP_001310253.1:n.-49-1017G>A | |
| NM_001323325.1:c.-49-1017G>A | NP_001310254.1:n.-49-1017G>A | |
| NM_001323326.1:c.-49-1017G>A | NP_001310255.1:n.-49-1017G>A | |
| NM_001323327.1:c.-49-1017G>A | NP_001310256.1:n.-49-1017G>A | |
| NM_001323328.1:c.-49-1017G>A | NP_001310257.1:n.-49-1017G>A | |
| NM_001323329.1:c.-49-1017G>A | NP_001310258.1:n.-49-1017G>A | |
| NM_001323330.1:c.-49-1017G>A | NP_001310259.1:n.-49-1017G>A | |
| NM_001323331.1:c.-49-1017G>A | NP_001310260.1:n.-49-1017G>A | |
| NM_139046.3:c.-49-1017G>A | NP_620634.1:n.-49-1017G>A | |
| NM_139049.3:c.-49-1017G>A | NP_620637.1:n.-49-1017G>A | |
| NR_136583.1:n.184-1017G>A | ||
| NR_136584.1:n.184-1017G>A | ||
| NR_136585.1:n.184-1017G>A | ||
| XM_024448079.1:c.-49-1017G>A | XP_024303847.1:n.-49-1017G>A | |
| XM_024448080.1:c.-49-1017G>A | XP_024303848.1:n.-49-1017G>A | |
| NM_001323302.2:c.-49-1017G>A | NP_001310231.1:n.-49-1017G>A | |
| NM_001323320.2:c.-49-1017G>A | NP_001310249.1:n.-49-1017G>A | |
| NM_001323321.2:c.-49-1017G>A | NP_001310250.1:n.-49-1017G>A | |
| NM_001323322.2:c.-49-1017G>A | NP_001310251.1:n.-49-1017G>A | |
| NM_001323323.2:c.-49-1017G>A | NP_001310252.1:n.-49-1017G>A | |
| NM_001323324.2:c.-49-1017G>A | NP_001310253.1:n.-49-1017G>A | |
| NM_001323325.2:c.-49-1017G>A | NP_001310254.1:n.-49-1017G>A | |
| NM_001323326.2:c.-49-1017G>A | NP_001310255.1:n.-49-1017G>A | |
| NM_001323327.2:c.-49-1017G>A | NP_001310256.1:n.-49-1017G>A | |
| NM_001323328.2:c.-49-1017G>A | NP_001310257.1:n.-49-1017G>A | |
| NM_001323329.2:c.-49-1017G>A MANE Select | NP_001310258.1:n.-49-1017G>A | |
| NM_001323330.2:c.-49-1017G>A | NP_001310259.1:n.-49-1017G>A | |
| NM_001323331.2:c.-49-1017G>A | NP_001310260.1:n.-49-1017G>A | |
| NM_139046.4:c.-49-1017G>A | NP_620634.1:n.-49-1017G>A | |
| NM_139049.4:c.-49-1017G>A | NP_620637.1:n.-49-1017G>A | |
| NR_136583.2:n.146-1017G>A | ||
| NR_136584.2:n.146-1017G>A | ||
| NR_136585.2:n.146-1017G>A | ||
| NM_001278547.2:c.-49-1017G>A | NP_001265476.1:n.-49-1017G>A | |
| NM_001278548.2:c.-49-1017G>A | NP_001265477.1:n.-49-1017G>A |