Linked Data
dbSNP Id:
rs3788964
gnomAD v2:
2-163207480-T-C
gnomAD v3:
2-162350970-T-C
gnomAD v4:
2-162350970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162350970T>C , CM000664.2:g.162350970T>C | GRCh38 |
| NC_000002.11:g.163207480T>C , CM000664.1:g.163207480T>C | GRCh37 |
| NC_000002.10:g.162915726T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000437150.7:c.193-1368T>C MANE Select | ENSP00000394842.2:n.193-1368T>C | |
| ENST00000233612.8:c.136-1368T>C | ENSP00000233612.4:n.136-1368T>C | |
| ENST00000429691.6:c.136-1368T>C | ENSP00000412899.2:n.136-1368T>C | |
| ENST00000437150.6:c.193-1368T>C | ENSP00000394842.2:n.193-1368T>C | |
| ENST00000446271.5:c.271-1368T>C | ENSP00000393218.1:n.271-1368T>C | |
| ENST00000453113.6:c.136-1368T>C | ENSP00000403805.2:n.136-1368T>C | |
| ENST00000473240.5:n.624-1368T>C | ||
| ENST00000479199.1:n.260-1368T>C | ||
| ENST00000481161.5:n.308-1368T>C | ||
| ENST00000487445.6:n.283-1368T>C | ||
| NM_012198.3:c.193-1368T>C | NP_036330.1:n.193-1368T>C | |
| XM_005246446.2:c.193-1368T>C | XP_005246503.1:n.193-1368T>C | |
| XM_006712398.2:c.271-1368T>C | XP_006712461.1:n.271-1368T>C | |
| XM_006712399.2:c.271-1368T>C | XP_006712462.1:n.271-1368T>C | |
| XM_006712400.2:c.238-1368T>C | XP_006712463.1:n.238-1368T>C | |
| XM_006712401.2:c.271-1368T>C | XP_006712464.1:n.271-1368T>C | |
| XM_011510926.1:c.136-1368T>C | XP_011509228.1:n.136-1368T>C | |
| XM_011510927.1:c.136-1368T>C | XP_011509229.1:n.136-1368T>C | |
| NM_001330265.1:c.238-1368T>C | NP_001317194.1:n.238-1368T>C | |
| NM_001330266.1:c.238-1368T>C | NP_001317195.1:n.238-1368T>C | |
| NM_001330267.1:c.238-1368T>C | NP_001317196.1:n.238-1368T>C | |
| NM_001330268.1:c.271-1368T>C | NP_001317197.1:n.271-1368T>C | |
| NM_001330270.1:c.136-1368T>C | NP_001317199.1:n.136-1368T>C | |
| NM_001330271.1:c.136-1368T>C | NP_001317200.1:n.136-1368T>C | |
| NM_012198.4:c.193-1368T>C | NP_036330.1:n.193-1368T>C | |
| XM_005246446.3:c.193-1368T>C | XP_005246503.1:n.193-1368T>C | |
| XM_006712398.4:c.271-1368T>C | XP_006712461.1:n.271-1368T>C | |
| XM_006712400.4:c.238-1368T>C | XP_006712463.1:n.238-1368T>C | |
| XM_011510926.2:c.136-1368T>C | XP_011509228.1:n.136-1368T>C | |
| XM_017003767.1:c.136-1368T>C | XP_016859256.1:n.136-1368T>C | |
| XM_017003769.2:c.271-1368T>C | XP_016859258.1:n.271-1368T>C | |
| NM_012198.5:c.193-1368T>C MANE Select | NP_036330.1:n.193-1368T>C | |
| NM_001330270.2:c.136-1368T>C | NP_001317199.1:n.136-1368T>C | |
| NM_001330271.2:c.136-1368T>C | NP_001317200.1:n.136-1368T>C |