Linked Data
dbSNP Id:
rs746128984
ExAC:
3:119133165 G / C
gnomAD v2:
3-119133165-G-C
gnomAD v4:
3-119414318-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414318G>C , CM000665.2:g.119414318G>C | GRCh38 |
| NC_000003.11:g.119133165G>C , CM000665.1:g.119133165G>C | GRCh37 |
| NC_000003.10:g.120615855G>C | NCBI36 |
| NG_007665.2:g.124946G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2389G>C MANE Select | ENSP00000264245.4:p.Val797Leu | |
| ENST00000264245.8:c.2389G>C | ENSP00000264245.4:p.Val797Leu | |
| NM_020754.3:c.2389G>C | NP_065805.2:p.Val797Leu | |
| XM_005247671.3:c.2296G>C | XP_005247728.1:p.Val766Leu | |
| XM_006713714.2:c.2329G>C | XP_006713777.1:p.Val777Leu | |
| XM_006713714.3:c.2329G>C | XP_006713777.1:p.Val777Leu | |
| XM_017006955.1:c.1897G>C | XP_016862444.1:p.Val633Leu | |
| NM_020754.4:c.2389G>C MANE Select | NP_065805.2:p.Val797Leu |