Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29225552C>T , CM000664.2:g.29225552C>T | GRCh38 |
| NC_000002.11:g.29448418C>T , CM000664.1:g.29448418C>T | GRCh37 |
| NC_000002.10:g.29301922C>T | NCBI36 |
| NG_009445.1:g.701015G>A , LRG_488:g.701015G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.3081G>A MANE Select | NP_004295.2:p.Pro1027= |
| ENST00000389048.8:c.3081G>A MANE Select | ENSP00000373700.3:p.Pro1027= |
| NM_004304.4:c.3081G>A | NP_004295.2:p.Pro1027= |
| ENST00000389048.7:c.3081G>A | ENSP00000373700.3:p.Pro1027= |
| ENST00000431873.6:c.247G>A | |
| ENST00000618119.4:c.1950G>A | ENSP00000482733.1:p.Pro650= |
| XM_024452778.1:c.234G>A | XP_024308546.1:p.Pro78= |
| XR_001738688.2:n.3937G>A |