Linked Data
dbSNP Id:
rs13235543
gnomAD v2:
7-73013901-C-G
gnomAD v3:
7-73599571-C-G
gnomAD v4:
7-73599571-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73599571C>G , CM000669.2:g.73599571C>G | GRCh38 |
| NC_000007.13:g.73013901C>G , CM000669.1:g.73013901C>G | GRCh37 |
| NC_000007.12:g.72651837C>G | NCBI36 |
| NG_009307.1:g.29970G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313375.8:c.1026G>C MANE Select | ENSP00000320886.3:p.Pro342= | |
| ENST00000313375.7:c.1026G>C | ENSP00000320886.3:p.Pro342= | |
| ENST00000345114.9:c.1026G>C | ENSP00000343767.5:p.Pro342= | |
| ENST00000354613.5:c.1026G>C | ENSP00000346629.1:p.Pro342= | |
| ENST00000414749.6:c.1026G>C | ENSP00000412330.2:p.Pro342= | |
| ENST00000429400.6:c.1026G>C | ENSP00000406296.2:p.Pro342= | |
| ENST00000434326.5:c.747G>C | ENSP00000392636.1:p.Pro249= | |
| ENST00000453275.1:c.525G>C | ENSP00000395172.1:p.Pro175= | |
| ENST00000476404.5:n.1121G>C | ||
| NM_032951.2:c.1026G>C | NP_116569.1:p.Pro342= | |
| NM_032952.2:c.1026G>C | NP_116570.1:p.Pro342= | |
| NM_032953.2:c.1026G>C | NP_116571.1:p.Pro342= | |
| NM_032954.2:c.1026G>C | NP_116572.1:p.Pro342= | |
| XM_011516277.1:c.1221G>C | XP_011514579.1:p.Pro407= | |
| XM_011516278.1:c.1221G>C | XP_011514580.1:p.Pro407= | |
| XM_011516279.1:c.1221G>C | XP_011514581.1:p.Pro407= | |
| XM_011516280.1:c.525G>C | XP_011514582.1:p.Pro175= | |
| XM_011516281.1:c.198G>C | XP_011514583.1:p.Pro66= | |
| XR_927474.1:n.1251G>C | ||
| XR_927475.1:n.1056G>C | ||
| NR_134541.1:n.1077G>C | ||
| XM_011516281.2:c.198G>C | XP_011514583.1:p.Pro66= | |
| XM_017012263.1:c.117G>C | XP_016867752.1:p.Pro39= | |
| XM_024446784.1:c.198G>C | XP_024302552.1:p.Pro66= | |
| XR_001744799.1:n.1251G>C | ||
| NM_032951.3:c.1026G>C MANE Select | NP_116569.1:p.Pro342= | |
| NM_032952.3:c.1026G>C | NP_116570.1:p.Pro342= | |
| NM_032953.3:c.1026G>C | NP_116571.1:p.Pro342= | |
| NM_032954.3:c.1026G>C | NP_116572.1:p.Pro342= | |
| NR_134541.2:n.1056G>C |