Linked Data
dbSNP Id:
rs7143164
gnomAD v2:
14-62166755-G-C
gnomAD v3:
14-61700037-G-C
gnomAD v4:
14-61700037-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61700037G>C , CM000676.2:g.61700037G>C | GRCh38 |
| NC_000014.8:g.62166755G>C , CM000676.1:g.62166755G>C | GRCh37 |
| NC_000014.7:g.61236508G>C | NCBI36 |
| NG_029606.1:g.9637G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337138.9:c.35+4198G>C MANE Select | ENSP00000338018.4:n.35+4198G>C | |
| ENST00000323441.10:c.35+4198G>C | ENSP00000323326.6:n.35+4198G>C | |
| ENST00000337138.8:c.35+4198G>C | ENSP00000338018.4:n.35+4198G>C | |
| ENST00000394997.5:c.35+4198G>C | ENSP00000378446.1:n.35+4198G>C | |
| ENST00000539097.2:c.104+2083G>C | ENSP00000437955.1:n.104+2083G>C | |
| ENST00000553999.5:n.327+4198G>C | ||
| ENST00000557206.1:n.52+1091G>C | ||
| ENST00000557446.5:n.327+4198G>C | ||
| ENST00000557538.5:c.-146+2083G>C | ENSP00000451696.1:n.-146+2083G>C | |
| NM_001243084.1:c.104+2083G>C | NP_001230013.1:n.104+2083G>C | |
| NM_001530.3:c.35+4198G>C | NP_001521.1:n.35+4198G>C | |
| NM_181054.2:c.35+4198G>C | NP_851397.1:n.35+4198G>C | |
| NM_001530.4:c.35+4198G>C MANE Select | NP_001521.1:n.35+4198G>C | |
| NM_181054.3:c.35+4198G>C | NP_851397.1:n.35+4198G>C | |
| NM_001243084.2:c.104+2083G>C | NP_001230013.1:n.104+2083G>C |