Linked Data
dbSNP Id:
rs755417938
ExAC:
19:7122940 C / T
gnomAD v2:
19-7122940-C-T
gnomAD v4:
19-7122929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7122929C>T , CM000681.2:g.7122929C>T | GRCh38 |
| NC_000019.9:g.7122940C>T , CM000681.1:g.7122940C>T | GRCh37 |
| NC_000019.8:g.7073940C>T | NCBI36 |
| NG_008852.2:g.176072G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.3319G>A MANE Select | ENSP00000303830.4:p.Ala1107Thr | |
| ENST00000302850.9:c.3319G>A | ENSP00000303830.4:p.Ala1107Thr | |
| ENST00000341500.9:c.3283G>A | ENSP00000342838.4:p.Ala1095Thr | |
| ENST00000593970.1:n.165G>A | ||
| ENST00000601099.1:n.230G>A | ||
| NM_000208.2:c.3319G>A | NP_000199.2:p.Ala1107Thr | |
| NM_000208.3:c.3319G>A | NP_000199.2:p.Ala1107Thr | |
| NM_001079817.1:c.3283G>A | NP_001073285.1:p.Ala1095Thr | |
| NM_001079817.2:c.3283G>A | NP_001073285.1:p.Ala1095Thr | |
| XM_011527988.1:c.3394G>A | XP_011526290.1:p.Ala1132Thr | |
| XM_011527989.1:c.3358G>A | XP_011526291.1:p.Ala1120Thr | |
| XM_011527988.2:c.3316G>A | XP_011526290.2:p.Ala1106Thr | |
| XM_011527989.3:c.3280G>A | XP_011526291.2:p.Ala1094Thr | |
| NM_000208.4:c.3319G>A MANE Select | NP_000199.2:p.Ala1107Thr | |
| NM_001079817.3:c.3283G>A | NP_001073285.1:p.Ala1095Thr |