Linked Data
dbSNP Id:
rs1057898
gnomAD v2:
5-135517150-T-C
gnomAD v3:
5-136181462-T-C
gnomAD v4:
5-136181462-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136181462T>C , CM000667.2:g.136181462T>C | GRCh38 |
| NC_000005.9:g.135517150T>C , CM000667.1:g.135517150T>C | GRCh37 |
| NC_000005.8:g.135545049T>C | NCBI36 |
| NG_032037.1:g.53616T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545279.6:c.*3982T>C MANE Select | ENSP00000441954.2:n.*3982T>C | |
| ENST00000513418.1:c.165-5699T>C | ||
| ENST00000545279.5:c.*3982T>C | ENSP00000441954.2:n.*3982T>C | |
| ENST00000545620.5:c.*3982T>C | ENSP00000446474.2:n.*3982T>C | |
| NM_001001419.2:c.*3982T>C | NP_001001419.1:n.*3982T>C | |
| NM_001001420.2:c.*3982T>C | NP_001001420.1:n.*3982T>C | |
| NM_005903.6:c.*3982T>C | NP_005894.3:n.*3982T>C | |
| XM_017009470.2:c.*3982T>C | XP_016864959.1:n.*3982T>C | |
| XM_024446046.1:c.*3982T>C | XP_024301814.1:n.*3982T>C | |
| XM_024446047.1:c.*3982T>C | XP_024301815.1:n.*3982T>C | |
| NM_005903.7:c.*3982T>C MANE Select | NP_005894.3:n.*3982T>C | |
| NM_001001419.3:c.*3982T>C | NP_001001419.1:n.*3982T>C | |
| NM_001001420.3:c.*3982T>C | NP_001001420.1:n.*3982T>C |