Linked Data
dbSNP Id:
rs7911488
ExAC:
10:105154089 A / G
gnomAD v2:
10-105154089-A-G
gnomAD v3:
10-103394332-A-G
gnomAD v4:
10-103394332-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103394332A>G , CM000672.2:g.103394332A>G | GRCh38 |
| NC_000010.10:g.105154089A>G , CM000672.1:g.105154089A>G | GRCh37 |
| NC_000010.9:g.105144079A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369815.6:c.-10+1414T>C (ATP5MK) MANE Select | ENSP00000358830.1:n.-10+1414T>C | |
| ENST00000369825.6:c.-143T>C (ATP5MK) | ENSP00000358840.1:n.-143T>C | |
| ENST00000309579.7:c.-9-1866T>C (ATP5MK) | ENSP00000311245.3:n.-9-1866T>C | |
| ENST00000337003.4:c.-143T>C (ATP5MK) | ENSP00000337705.4:n.-143T>C | |
| ENST00000369811.5:c.-10+1414T>C (ATP5MK) | ENSP00000358826.1:n.-10+1414T>C | |
| ENST00000369815.5:c.-10+1414T>C (ATP5MK) | ENSP00000358830.1:n.-10+1414T>C | |
| ENST00000369825.5:c.-143T>C (ATP5MK) | ENSP00000358840.1:n.-143T>C | |
| NM_001206426.1:c.-9-1866T>C (ATP5MK) | NP_001193355.1:n.-9-1866T>C | |
| NM_001206427.1:c.-10+1414T>C (ATP5MK) | NP_001193356.1:n.-10+1414T>C | |
| NM_032747.3:c.-143T>C (ATP5MK) | NP_116136.1:n.-143T>C | |
| NR_031707.1:n.70T>C (MIR1307) | ||
| XM_024448237.1:c.-143T>C (ATP5MK) | XP_024304005.1:n.-143T>C | |
| NM_001206427.2:c.-10+1414T>C (ATP5MK) MANE Select | NP_001193356.1:n.-10+1414T>C | |
| NM_001206426.2:c.-9-1866T>C (ATP5MK) | NP_001193355.1:n.-9-1866T>C | |
| NM_032747.4:c.-143T>C (ATP5MK) | NP_116136.1:n.-143T>C |