Linked Data
gnomAD v4:
2-240879136-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879136G>C , CM000664.2:g.240879136G>C | GRCh38 |
| NC_000002.11:g.241818553G>C , CM000664.1:g.241818553G>C | GRCh37 |
| NC_000002.10:g.241467226G>C | NCBI36 |
| NG_008005.1:g.15392G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*315G>C MANE Select | ENSP00000302620.3:n.*315G>C | |
| ENST00000470255.1:n.1272G>C | ||
| NM_000030.3:c.*315G>C MANE Select | NP_000021.1:n.*315G>C |