Linked Data
dbSNP Id:
rs1062980
gnomAD v2:
15-78792527-T-C
gnomAD v3:
15-78500185-T-C
gnomAD v4:
15-78500185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78500185T>C , CM000677.2:g.78500185T>C | GRCh38 |
| NC_000015.9:g.78792527T>C , CM000677.1:g.78792527T>C | GRCh37 |
| NC_000015.8:g.76579582T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258886.13:c.*2042T>C MANE Select | ENSP00000258886.8:n.*2042T>C | |
| ENST00000258886.12:c.*2042T>C | ENSP00000258886.8:n.*2042T>C | |
| NM_004136.2:c.*2042T>C | NP_004127.1:n.*2042T>C | |
| NM_001320941.1:c.*2042T>C | NP_001307870.1:n.*2042T>C | |
| NM_001320942.1:c.*2042T>C | NP_001307871.1:n.*2042T>C | |
| NM_001354994.1:c.*2042T>C | NP_001341923.1:n.*2042T>C | |
| NM_004136.3:c.*2042T>C | NP_004127.1:n.*2042T>C | |
| NM_004136.4:c.*2042T>C MANE Select | NP_004127.2:n.*2042T>C | |
| NM_001320941.2:c.*2042T>C | NP_001307870.2:n.*2042T>C | |
| NM_001320942.2:c.*2042T>C | NP_001307871.2:n.*2042T>C | |
| NM_001354994.2:c.*2042T>C | NP_001341923.2:n.*2042T>C |