Linked Data
ClinVar Variation Id:
236475
dbSNP Id:
rs749746650
gnomAD v3:
1-197429605-G-A
gnomAD v4:
1-197429605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429605G>A , CM000663.2:g.197429605G>A | GRCh38 |
| NC_000001.10:g.197398735G>A , CM000663.1:g.197398735G>A | GRCh37 |
| NC_000001.9:g.195665358G>A | NCBI36 |
| NG_008483.1:g.166328G>A | |
| NG_008483.2:g.233144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2833G>A MANE Select | ENSP00000356370.3:p.Gly945Arg | |
| ENST00000638467.1:c.2833G>A | ENSP00000491102.1:p.Gly945Arg | |
| ENST00000681519.1:c.1714G>A | ENSP00000505267.1:p.Gly572Arg | |
| ENST00000367397.1:c.976G>A | ENSP00000356367.1:p.Gly326Arg | |
| ENST00000367399.6:c.2497G>A | ENSP00000356369.2:p.Gly833Arg | |
| ENST00000367400.7:c.2833G>A | ENSP00000356370.3:p.Gly945Arg | |
| ENST00000484075.5:c.2833G>A | ENSP00000433932.1:p.Gly945Arg | |
| ENST00000535699.5:c.2761G>A | ENSP00000438786.1:p.Gly921Arg | |
| ENST00000538660.5:c.2129-5995G>A | ENSP00000438091.1:n.2129-5995G>A | |
| NM_001193640.1:c.2497G>A | NP_001180569.1:p.Gly833Arg | |
| NM_001257965.1:c.2761G>A | NP_001244894.1:p.Gly921Arg | |
| NM_001257966.1:c.2129-5995G>A | NP_001244895.1:n.2129-5995G>A | |
| NM_201253.2:c.2833G>A | NP_957705.1:p.Gly945Arg | |
| NR_047563.1:n.2834G>A | ||
| NR_047564.1:n.3042G>A | ||
| XM_011509365.1:c.2833G>A | XP_011507667.1:p.Gly945Arg | |
| XM_011509366.1:c.2833G>A | XP_011507668.1:p.Gly945Arg | |
| XM_011509367.1:c.2833G>A | XP_011507669.1:p.Gly945Arg | |
| XM_011509368.1:c.2251G>A | XP_011507670.1:p.Gly751Arg | |
| XM_011509369.1:c.1276G>A | XP_011507671.1:p.Gly426Arg | |
| XM_011509365.2:c.2833G>A | XP_011507667.1:p.Gly945Arg | |
| XM_011509369.2:c.1276G>A | XP_011507671.1:p.Gly426Arg | |
| XM_017000851.1:c.1990G>A | XP_016856340.1:p.Gly664Arg | |
| XM_017000852.1:c.2968G>A | XP_016856341.1:p.Gly990Arg | |
| NM_201253.3:c.2833G>A MANE Select | NP_957705.1:p.Gly945Arg | |
| NM_001193640.2:c.2497G>A | NP_001180569.1:p.Gly833Arg | |
| NM_001257965.2:c.2761G>A | NP_001244894.1:p.Gly921Arg | |
| NR_047563.2:n.2786G>A | ||
| NR_047564.2:n.2994G>A | ||
| NM_001257966.2:c.2129-5995G>A | NP_001244895.1:n.2129-5995G>A |