Linked Data
gnomAD v4:
2-135859172-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859172T>G , CM000664.2:g.135859172T>G | GRCh38 |
| NC_000002.11:g.136616742T>G , CM000664.1:g.136616742T>G | GRCh37 |
| NC_000002.10:g.136333212T>G | NCBI36 |
| NG_008104.2:g.998A>C , LRG_338:g.998A>C | |
| NG_008958.1:g.22270A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1362+129A>C MANE Select | ENSP00000264156.2:n.1362+129A>C | |
| ENST00000264156.2:c.1362+129A>C | ENSP00000264156.2:n.1362+129A>C | |
| ENST00000492091.1:n.181+3435A>C | ||
| NM_005915.5:c.1362+129A>C | NP_005906.2:n.1362+129A>C | |
| NM_005915.6:c.1362+129A>C MANE Select | NP_005906.2:n.1362+129A>C |