Linked Data
dbSNP Id:
rs1215995529
gnomAD v2:
6-32149352-T-G
gnomAD v3:
6-32181575-T-G
gnomAD v4:
6-32181575-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181575T>G , CM000668.2:g.32181575T>G | GRCh38 |
| NC_000006.11:g.32149352T>G , CM000668.1:g.32149352T>G | GRCh37 |
| NC_000006.10:g.32257330T>G | NCBI36 |
| NG_029868.1:g.7748A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.991+31A>C MANE Select | ENSP00000364217.4:n.991+31A>C | |
| ENST00000375055.6:c.1022A>C | ENSP00000364195.2:p.Glu341Ala | |
| ENST00000375065.6:c.178+31A>C | ENSP00000364206.6:n.178+31A>C | |
| ENST00000375067.7:c.836+31A>C | ENSP00000364208.3:n.836+31A>C | |
| ENST00000375069.7:c.1039+31A>C | ENSP00000364210.4:n.1039+31A>C | |
| ENST00000375070.7:c.662-98A>C | ENSP00000364211.4:n.662-98A>C | |
| ENST00000375076.8:c.991+31A>C | ENSP00000364217.4:n.991+31A>C | |
| ENST00000438221.6:c.1070A>C | ENSP00000387887.2:p.Glu357Ala | |
| ENST00000469940.5:n.61A>C | ||
| ENST00000473619.5:n.533+31A>C | ||
| ENST00000484849.5:n.1198+31A>C | ||
| ENST00000488669.5:n.564A>C | ||
| ENST00000620802.4:c.283-142A>C | ENSP00000484081.1:n.283-142A>C | |
| NM_001136.4:c.991+31A>C | NP_001127.1:n.991+31A>C | |
| NM_001206929.1:c.1039+31A>C | NP_001193858.1:n.1039+31A>C | |
| NM_001206932.1:c.949+31A>C | NP_001193861.1:n.949+31A>C | |
| NM_001206934.1:c.1070A>C | NP_001193863.1:p.Glu357Ala | |
| NM_001206936.1:c.970A>C | NP_001193865.1:p.Lys324Gln | |
| NM_001206940.1:c.1022A>C | NP_001193869.1:p.Glu341Ala | |
| NM_001206954.1:c.880A>C | NP_001193883.1:p.Lys294Gln | |
| NM_001206966.1:c.1022A>C | NP_001193895.1:p.Glu341Ala | |
| NM_172197.2:c.836+31A>C | NP_751947.1:n.836+31A>C | |
| NR_038190.1:n.1274+31A>C | ||
| XM_017010328.2:c.1021A>C | XP_016865817.1:p.Lys341Gln | |
| XR_001743189.2:n.1055+31A>C | ||
| XR_001743190.2:n.1007+31A>C | ||
| NM_001136.5:c.991+31A>C MANE Select | NP_001127.1:n.991+31A>C | |
| NM_001206932.2:c.949+31A>C | NP_001193861.1:n.949+31A>C | |
| NM_001206936.2:c.970A>C | NP_001193865.1:p.Lys324Gln | |
| NM_001206940.2:c.1022A>C | NP_001193869.1:p.Glu341Ala | |
| NM_001206954.2:c.880A>C | NP_001193883.1:p.Lys294Gln | |
| NM_001206966.2:c.1022A>C | NP_001193895.1:p.Glu341Ala | |
| NM_172197.3:c.836+31A>C | NP_751947.1:n.836+31A>C | |
| NR_038190.2:n.1205+31A>C | ||
| NM_001206929.2:c.1039+31A>C | NP_001193858.1:n.1039+31A>C | |
| NM_001206934.2:c.1070A>C | NP_001193863.1:p.Glu357Ala |