Linked Data
dbSNP Id:
rs4148254
ExAC:
4:115544713 C / T
gnomAD v2:
4-115544713-C-T
gnomAD v3:
4-114623557-C-T
gnomAD v4:
4-114623557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.114623557C>T , CM000666.2:g.114623557C>T | GRCh38 |
| NC_000004.11:g.115544713C>T , CM000666.1:g.115544713C>T | GRCh37 |
| NC_000004.10:g.115764162C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310836.11:c.677C>T MANE Select | ENSP00000311648.6:p.Pro226Leu | |
| ENST00000310836.10:c.677C>T | ENSP00000311648.6:p.Pro226Leu | |
| ENST00000394511.3:c.677C>T | ENSP00000378019.3:p.Pro226Leu | |
| NM_001128174.1:c.677C>T | NP_001121646.1:p.Pro226Leu | |
| NM_003360.3:c.677C>T | NP_003351.2:p.Pro226Leu | |
| XM_006714302.2:c.677C>T | XP_006714365.1:p.Pro226Leu | |
| XM_006714303.2:c.677C>T | XP_006714366.1:p.Pro226Leu | |
| XM_011532232.1:c.677C>T | XP_011530534.1:p.Pro226Leu | |
| NM_001128174.2:c.677C>T | NP_001121646.1:p.Pro226Leu | |
| NM_001322112.1:c.677C>T | NP_001309041.1:p.Pro226Leu | |
| NM_001322113.1:c.677C>T | NP_001309042.1:p.Pro226Leu | |
| NM_001322114.1:c.677C>T | NP_001309043.1:p.Pro226Leu | |
| NM_003360.4:c.677C>T | NP_003351.2:p.Pro226Leu | |
| XM_024454207.1:c.677C>T | XP_024309975.1:p.Pro226Leu | |
| XM_024454208.1:c.677C>T | XP_024309976.1:p.Pro226Leu | |
| XM_024454209.1:c.677C>T | XP_024309977.1:p.Pro226Leu | |
| XM_024454210.1:c.677C>T | XP_024309978.1:p.Pro226Leu | |
| XM_024454211.1:c.677C>T | XP_024309979.1:p.Pro226Leu | |
| NM_001128174.3:c.677C>T MANE Select | NP_001121646.2:p.Pro226Leu | |
| NM_001322114.2:c.677C>T | NP_001309043.2:p.Pro226Leu | |
| NM_003360.5:c.677C>T | NP_003351.3:p.Pro226Leu | |
| NM_001322112.2:c.677C>T | NP_001309041.2:p.Pro226Leu | |
| NM_001322113.2:c.677C>T | NP_001309042.2:p.Pro226Leu |