MyVariant.info:
GRCh38
chr4:g.102594156G>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102594156G>C , CM000666.2:g.102594156G>C | GRCh38 |
| NC_000004.11:g.103515313G>C , CM000666.1:g.103515313G>C | GRCh37 |
| NC_000004.10:g.103734351G>C | NCBI36 |
| NG_050628.1:g.97828G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.1234+588G>C | ENSP00000426147.2:n.1234+588G>C | |
| ENST00000509165.2:c.1210+588G>C | ENSP00000423877.2:n.1210+588G>C | |
| ENST00000697794.1:c.*851+588G>C | ENSP00000513443.1:n.*851+588G>C | |
| ENST00000697799.1:n.707+588G>C | ||
| ENST00000697800.1:n.349+588G>C | ||
| ENST00000226574.9:c.1210+588G>C MANE Select | ENSP00000226574.4:n.1210+588G>C | |
| ENST00000652569.1:c.1186+588G>C | ||
| ENST00000652619.1:c.1231+588G>C | ENSP00000499031.1:n.1231+588G>C | |
| ENST00000226574.8:c.1210+588G>C | ENSP00000226574.4:n.1210+588G>C | |
| ENST00000394820.8:c.1207+588G>C | ENSP00000378297.4:n.1207+588G>C | |
| ENST00000504044.1:n.320+588G>C | ||
| ENST00000505458.5:c.1207+588G>C | ENSP00000424790.1:n.1207+588G>C | |
| ENST00000600343.5:c.667+588G>C | ENSP00000469340.1:n.667+588G>C | |
| NM_001165412.1:c.1207+588G>C | NP_001158884.1:n.1207+588G>C | |
| NM_003998.3:c.1210+588G>C | NP_003989.2:n.1210+588G>C | |
| XM_011532006.1:c.1231+588G>C | XP_011530308.1:n.1231+588G>C | |
| XM_011532007.1:c.1207+588G>C | XP_011530309.1:n.1207+588G>C | |
| XM_011532008.1:c.1051+588G>C | XP_011530310.1:n.1051+588G>C | |
| XM_011532009.1:c.814+588G>C | XP_011530311.1:n.814+588G>C | |
| NM_001319226.1:c.1207+588G>C | NP_001306155.1:n.1207+588G>C | |
| XM_011532006.2:c.1231+588G>C | XP_011530308.1:n.1231+588G>C | |
| XM_024454067.1:c.1234+588G>C | XP_024309835.1:n.1234+588G>C | |
| XM_024454068.1:c.1210+588G>C | XP_024309836.1:n.1210+588G>C | |
| XM_024454069.1:c.1075+588G>C | XP_024309837.1:n.1075+588G>C | |
| NM_003998.4:c.1210+588G>C MANE Select | NP_003989.2:n.1210+588G>C | |
| NM_001165412.2:c.1207+588G>C | NP_001158884.1:n.1207+588G>C | |
| NM_001319226.2:c.1207+588G>C | NP_001306155.1:n.1207+588G>C | |
| NM_001382625.1:c.1210+588G>C | NP_001369554.1:n.1210+588G>C | |
| NM_001382626.1:c.1210+588G>C | NP_001369555.1:n.1210+588G>C | |
| NM_001382627.1:c.1207+588G>C | NP_001369556.1:n.1207+588G>C | |
| NM_001382628.1:c.1168+588G>C | NP_001369557.1:n.1168+588G>C |