Linked Data
gnomAD v4:
10-94981207-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981207G>C , CM000672.2:g.94981207G>C | GRCh38 |
| NC_000010.10:g.96740964G>C , CM000672.1:g.96740964G>C | GRCh37 |
| NC_000010.9:g.96730954G>C | NCBI36 |
| NG_008385.1:g.47550G>C | |
| NG_008385.2:g.48050G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.986G>C MANE Select | ENSP00000260682.6:p.Arg329Pro | |
| ENST00000643112.1:c.844G>C | ENSP00000496202.1:p.Val282Leu | |
| ENST00000260682.6:c.986G>C | ENSP00000260682.6:p.Arg329Pro | |
| NM_000771.3:c.986G>C | NP_000762.2:p.Arg329Pro | |
| NM_000771.4:c.986G>C MANE Select | NP_000762.2:p.Arg329Pro |