Linked Data
gnomAD v4:
3-49130826-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130826C>A , CM000665.2:g.49130826C>A | GRCh38 |
| NC_000003.11:g.49168259C>A , CM000665.1:g.49168259C>A | GRCh37 |
| NC_000003.10:g.49143263C>A | NCBI36 |
| NG_008094.1:g.7341G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.950G>T MANE Select | ENSP00000307156.4:p.Arg317Leu | |
| ENST00000305544.8:c.950G>T | ENSP00000307156.4:p.Arg317Leu | |
| ENST00000418109.5:c.950G>T | ENSP00000388325.1:p.Arg317Leu | |
| NM_002292.3:c.950G>T | NP_002283.3:p.Arg317Leu | |
| XM_005265127.3:c.950G>T | XP_005265184.1:p.Arg317Leu | |
| XM_005265127.4:c.950G>T | XP_005265184.1:p.Arg317Leu | |
| NM_002292.4:c.950G>T MANE Select | NP_002283.3:p.Arg317Leu |