Linked Data
dbSNP Id:
rs1048603
ExAC:
2:234394487 G / A
gnomAD v2:
2-234394487-G-A
gnomAD v3:
2-233485841-G-A
gnomAD v4:
2-233485841-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233485841G>A , CM000664.2:g.233485841G>A | GRCh38 |
| NC_000002.11:g.234394487G>A , CM000664.1:g.234394487G>A | GRCh37 |
| NC_000002.10:g.234059226G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000678225.2:c.3334C>T MANE Select | ENSP00000502952.1:p.Arg1112Cys | |
| ENST00000678225.1:c.3334C>T | ENSP00000502952.1:p.Arg1112Cys | |
| ENST00000251722.10:c.3331C>T | ENSP00000251722.6:p.Arg1111Cys | |
| ENST00000427112.6:c.3331C>T | ENSP00000387898.2:p.Arg1111Cys | |
| ENST00000450940.5:c.510C>T | ||
| ENST00000450966.5:c.3367C>T | ENSP00000415434.1:p.Arg1123Cys | |
| ENST00000454354.1:c.234C>T | ||
| ENST00000473191.1:n.495C>T | ||
| ENST00000483519.5:n.479C>T | ||
| ENST00000496298.5:n.530C>T | ||
| NM_018218.2:c.3367C>T | NP_060688.1:p.Arg1123Cys | |
| XM_006712612.2:c.3370C>T | XP_006712675.1:p.Arg1124Cys | |
| XM_011511396.1:c.3382C>T | XP_011509698.1:p.Arg1128Cys | |
| XM_011511397.1:c.3346C>T | XP_011509699.1:p.Arg1116Cys | |
| XM_011511399.1:c.3073C>T | XP_011509701.1:p.Arg1025Cys | |
| XM_011511400.1:c.2962C>T | XP_011509702.1:p.Arg988Cys | |
| XM_011511402.1:c.1828C>T | XP_011509704.1:p.Arg610Cys | |
| NM_001365479.1:c.3334C>T | NP_001352408.1:p.Arg1112Cys | |
| NM_018218.3:c.3331C>T | NP_060688.2:p.Arg1111Cys | |
| XM_006712612.3:c.3370C>T | XP_006712675.1:p.Arg1124Cys | |
| XM_011511396.2:c.3382C>T | XP_011509698.1:p.Arg1128Cys | |
| XM_011511397.2:c.3346C>T | XP_011509699.1:p.Arg1116Cys | |
| XM_011511399.2:c.3073C>T | XP_011509701.1:p.Arg1025Cys | |
| XM_011511400.2:c.2962C>T | XP_011509702.1:p.Arg988Cys | |
| XM_017004427.1:c.2311C>T | XP_016859916.1:p.Arg771Cys | |
| XM_017004428.1:c.1828C>T | XP_016859917.1:p.Arg610Cys | |
| XR_001738818.1:n.3437C>T | ||
| XR_001738819.1:n.3425C>T | ||
| XR_001738820.1:n.3499C>T | ||
| NM_001365479.2:c.3334C>T MANE Select | NP_001352408.1:p.Arg1112Cys | |
| NM_001382295.1:c.3334C>T | NP_001369224.1:p.Arg1112Cys | |
| NM_001382296.1:c.3394C>T | NP_001369225.1:p.Arg1132Cys | |
| NM_001382298.1:c.3061C>T | NP_001369227.1:p.Arg1021Cys | |
| NM_001382302.1:c.253C>T | NP_001369231.1:p.Arg85Cys | |
| NM_018218.4:c.3331C>T | NP_060688.2:p.Arg1111Cys | |
| NR_168049.1:n.3560C>T | ||
| NR_168052.1:n.3590C>T | ||
| NR_168053.1:n.3599C>T | ||
| NR_168054.1:n.3273C>T | ||
| NR_168055.1:n.559C>T | ||
| NR_168056.1:n.536+23C>T |