Linked Data
ClinVar Variation Id:
1185537
dbSNP Id:
rs2076431
ExAC:
16:1818503 G / C
gnomAD v2:
16-1818503-G-C
gnomAD v3:
16-1768502-G-C
gnomAD v4:
16-1768502-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1768502G>C , CM000678.2:g.1768502G>C | GRCh38 |
| NC_000016.9:g.1818503G>C , CM000678.1:g.1818503G>C | GRCh37 |
| NC_000016.8:g.1758504G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610761.2:c.3768G>C MANE Select | ENSP00000481780.1:p.Gly1256= | |
| ENST00000673691.1:c.3789G>C | ENSP00000501096.1:p.Gly1263= | |
| ENST00000250894.8:c.3765G>C | ENSP00000250894.4:p.Gly1255= | |
| ENST00000356010.9:c.3747G>C | ENSP00000348290.5:p.Gly1249= | |
| ENST00000563868.1:n.448G>C | ||
| ENST00000564868.1:n.821G>C | ||
| ENST00000610761.1:c.3768G>C | ENSP00000481780.1:p.Gly1256= | |
| NM_001040439.1:c.3747G>C | NP_001035529.1:p.Gly1249= | |
| NM_015133.3:c.3765G>C | NP_055948.2:p.Gly1255= | |
| XM_005255187.1:c.3768G>C | XP_005255244.1:p.Gly1256= | |
| XM_005255190.1:c.3723G>C | XP_005255247.1:p.Gly1241= | |
| XM_006720869.1:c.3006G>C | XP_006720932.1:p.Gly1002= | |
| XM_011522429.1:c.3792G>C | XP_011520731.1:p.Gly1264= | |
| XM_011522430.1:c.3774G>C | XP_011520732.1:p.Gly1258= | |
| XM_011522431.1:c.3765G>C | XP_011520733.1:p.Gly1255= | |
| XM_011522432.1:c.3747G>C | XP_011520734.1:p.Gly1249= | |
| XM_011522433.1:c.3288G>C | XP_011520735.1:p.Gly1096= | |
| NM_001318852.1:c.3768G>C | NP_001305781.1:p.Gly1256= | |
| NM_015133.4:c.3765G>C | NP_055948.2:p.Gly1255= | |
| XM_005255190.2:c.3723G>C | XP_005255247.1:p.Gly1241= | |
| XM_011522429.2:c.3792G>C | XP_011520731.1:p.Gly1264= | |
| XM_011522430.2:c.3774G>C | XP_011520732.1:p.Gly1258= | |
| XM_024450201.1:c.3942G>C | XP_024305969.1:p.Gly1314= | |
| XM_024450202.1:c.3924G>C | XP_024305970.1:p.Gly1308= | |
| XM_024450203.1:c.3918G>C | XP_024305971.1:p.Gly1306= | |
| XM_024450204.1:c.3915G>C | XP_024305972.1:p.Gly1305= | |
| XM_024450205.1:c.3915G>C | XP_024305973.1:p.Gly1305= | |
| XM_024450206.1:c.3900G>C | XP_024305974.1:p.Gly1300= | |
| XM_024450207.1:c.3897G>C | XP_024305975.1:p.Gly1299= | |
| XM_024450208.1:c.3891G>C | XP_024305976.1:p.Gly1297= | |
| XM_024450209.1:c.3444G>C | XP_024305977.1:p.Gly1148= | |
| XM_024450210.1:c.3438G>C | XP_024305978.1:p.Gly1146= | |
| XM_024450211.1:c.3156G>C | XP_024305979.1:p.Gly1052= | |
| NM_001040439.2:c.3747G>C | NP_001035529.1:p.Gly1249= | |
| NM_015133.5:c.3765G>C | NP_055948.2:p.Gly1255= | |
| NM_001318852.2:c.3768G>C MANE Select | NP_001305781.1:p.Gly1256= |