Linked Data
ClinVar Variation Id:
435516
dbSNP Id:
rs775854644
ExAC:
19:7122744 A / G
gnomAD v2:
19-7122744-A-G
gnomAD v4:
19-7122733-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7122733A>G , CM000681.2:g.7122733A>G | GRCh38 |
| NC_000019.9:g.7122744A>G , CM000681.1:g.7122744A>G | GRCh37 |
| NC_000019.8:g.7073744A>G | NCBI36 |
| NG_008852.2:g.176268T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3410T>C MANE Select | ENSP00000303830.4:p.Ile1137Thr | |
| ENST00000302850.9:c.3410T>C | ENSP00000303830.4:p.Ile1137Thr | |
| ENST00000341500.9:c.3374T>C | ENSP00000342838.4:p.Ile1125Thr | |
| ENST00000593970.1:n.256T>C | ||
| ENST00000601099.1:n.321T>C | ||
| NM_000208.2:c.3410T>C | NP_000199.2:p.Ile1137Thr | |
| NM_000208.3:c.3410T>C | NP_000199.2:p.Ile1137Thr | |
| NM_001079817.1:c.3374T>C | NP_001073285.1:p.Ile1125Thr | |
| NM_001079817.2:c.3374T>C | NP_001073285.1:p.Ile1125Thr | |
| XM_011527988.1:c.3485T>C | XP_011526290.1:p.Ile1162Thr | |
| XM_011527989.1:c.3449T>C | XP_011526291.1:p.Ile1150Thr | |
| XM_011527988.2:c.3407T>C | XP_011526290.2:p.Ile1136Thr | |
| XM_011527989.3:c.3371T>C | XP_011526291.2:p.Ile1124Thr | |
| NM_000208.4:c.3410T>C MANE Select | NP_000199.2:p.Ile1137Thr | |
| NM_001079817.3:c.3374T>C | NP_001073285.1:p.Ile1125Thr |