Linked Data
dbSNP Id:
rs3915568
gnomAD v2:
20-61369472-T-C
gnomAD v3:
20-62738120-T-C
gnomAD v4:
20-62738120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62738120T>C , CM000682.2:g.62738120T>C | GRCh38 |
| NC_000020.10:g.61369472T>C , CM000682.1:g.61369472T>C | GRCh37 |
| NC_000020.9:g.60839917T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370501.4:c.715-16565T>C MANE Select | ENSP00000359532.3:n.715-16565T>C | |
| ENST00000370501.3:c.715-16565T>C | ENSP00000359532.3:n.715-16565T>C | |
| NM_002531.2:c.715-16565T>C | NP_002522.2:n.715-16565T>C | |
| XM_011528827.1:c.715-16565T>C | XP_011527129.1:n.715-16565T>C | |
| XM_011528827.2:c.715-16565T>C | XP_011527129.1:n.715-16565T>C | |
| NM_002531.3:c.715-16565T>C MANE Select | NP_002522.2:n.715-16565T>C |