Linked Data
dbSNP Id:
rs722555
gnomAD v2:
2-231033516-C-T
gnomAD v3:
2-230168800-C-T
gnomAD v4:
2-230168800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230168800C>T , CM000664.2:g.230168800C>T | GRCh38 |
| NC_000002.11:g.231033516C>T , CM000664.1:g.231033516C>T | GRCh37 |
| NC_000002.10:g.230741760C>T | NCBI36 |
| NG_008295.1:g.56312G>A , LRG_109:g.56312G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698099.1:c.*77+247G>A | ENSP00000513563.1:n.*77+247G>A | |
| ENST00000698100.1:c.*77+247G>A | ENSP00000513564.1:n.*77+247G>A | |
| ENST00000258381.11:c.*324G>A MANE Select | ENSP00000258381.6:n.*324G>A | |
| ENST00000358662.9:c.*324G>A | ENSP00000351488.4:n.*324G>A | |
| ENST00000477068.1:n.1218G>A | ||
| XM_005246525.2:c.*324G>A | XP_005246582.1:n.*324G>A | |
| XM_006712487.2:c.*324G>A | XP_006712550.1:n.*324G>A | |
| XM_006712489.2:c.*324G>A | XP_006712552.1:n.*324G>A | |
| XM_011511088.1:c.*324G>A | XP_011509390.1:n.*324G>A | |
| XM_011511089.1:c.*324G>A | XP_011509391.1:n.*324G>A | |
| XM_011511090.1:c.*324G>A | XP_011509392.1:n.*324G>A | |
| XM_011511091.1:c.*324G>A | XP_011509393.1:n.*324G>A | |
| XM_011511092.1:c.*324G>A | XP_011509394.1:n.*324G>A | |
| XM_005246525.4:c.*324G>A | XP_005246582.1:n.*324G>A | |
| XM_006712489.4:c.*324G>A | XP_006712552.1:n.*324G>A | |
| XM_011511088.3:c.*324G>A | XP_011509390.1:n.*324G>A | |
| XM_011511091.3:c.*324G>A | XP_011509393.1:n.*324G>A | |
| XM_024452850.1:c.*324G>A | XP_024308618.1:n.*324G>A | |
| NM_004509.4:c.*324G>A | NP_004500.4:n.*324G>A | |
| NM_080424.3:c.*324G>A | NP_536349.3:n.*324G>A | |
| NM_001378442.1:c.*324G>A | NP_001365371.1:n.*324G>A | |
| NM_001378443.1:c.*324G>A | NP_001365372.1:n.*324G>A | |
| NM_001378444.1:c.*324G>A | NP_001365373.1:n.*324G>A | |
| NM_001378445.1:c.*324G>A | NP_001365374.1:n.*324G>A | |
| NM_001378446.1:c.*324G>A | NP_001365375.1:n.*324G>A | |
| NM_004509.5:c.*324G>A | NP_004500.4:n.*324G>A | |
| NM_080424.4:c.*324G>A MANE Select | NP_536349.3:n.*324G>A |