Linked Data
dbSNP Id:
rs750185667
ExAC:
14:74951202 A / G
gnomAD v2:
14-74951202-A-G
gnomAD v4:
14-74484499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74484499A>G , CM000676.2:g.74484499A>G | GRCh38 |
| NC_000014.8:g.74951202A>G , CM000676.1:g.74951202A>G | GRCh37 |
| NC_000014.7:g.74020955A>G | NCBI36 |
| NG_007117.1:g.13883T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.279T>C MANE Select | ENSP00000451112.2:p.Cys93= | |
| ENST00000238633.6:c.279T>C | ENSP00000238633.2:p.Cys93= | |
| ENST00000434013.6:c.279T>C | ENSP00000412103.2:p.Cys93= | |
| ENST00000541064.5:c.279T>C | ENSP00000442488.1:p.Cys93= | |
| ENST00000553490.5:c.279T>C | ENSP00000451180.1:p.Cys93= | |
| ENST00000554482.1:c.158+1830T>C | ENSP00000451314.1:n.158+1830T>C | |
| ENST00000555592.1:c.279T>C | ENSP00000450887.1:p.Cys93= | |
| ENST00000555619.5:c.279T>C | ENSP00000451112.1:p.Cys93= | |
| ENST00000556009.5:c.344T>C | ||
| ENST00000557510.5:c.279T>C | ENSP00000451206.1:p.Cys93= | |
| NM_006432.3:c.279T>C | NP_006423.1:p.Cys93= | |
| NM_001363688.1:c.279T>C | NP_001350617.1:p.Cys93= | |
| NM_006432.4:c.279T>C | NP_006423.1:p.Cys93= | |
| NM_001375440.1:c.279T>C | NP_001362369.1:p.Cys93= | |
| NM_006432.5:c.279T>C MANE Select | NP_006423.1:p.Cys93= |