Linked Data
gnomAD v4:
12-65240078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240078T>C , CM000674.2:g.65240078T>C | GRCh38 |
| NC_000012.11:g.65633858T>C , CM000674.1:g.65633858T>C | GRCh37 |
| NC_000012.10:g.63920125T>C | NCBI36 |
| NG_016210.1:g.75508T>C | |
| NG_016210.2:g.75508T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2023+48T>C MANE Select | ENSP00000308369.2:n.2023+48T>C | |
| ENST00000308330.2:c.2023+48T>C | ENSP00000308369.2:n.2023+48T>C | |
| NM_001167614.1:c.2020+48T>C | NP_001161086.1:n.2020+48T>C | |
| NM_014319.4:c.2023+48T>C | NP_055134.2:n.2023+48T>C | |
| NM_014319.5:c.2023+48T>C MANE Select | NP_055134.2:n.2023+48T>C | |
| NM_001167614.2:c.2020+48T>C | NP_001161086.1:n.2020+48T>C |