Linked Data
gnomAD v3:
6-33164858-G-C
gnomAD v4:
6-33164858-G-C
MyVariant Identifiers:
chr6:g.33132635G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164858G>C , CM000668.2:g.33164858G>C | GRCh38 |
| NC_000006.11:g.33132635G>C , CM000668.1:g.33132635G>C | GRCh37 |
| NC_000006.10:g.33240613G>C | NCBI36 |
| NG_011589.1:g.32611C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683572.1:n.663C>G | ||
| ENST00000341947.7:c.4857C>G MANE Select | ENSP00000339915.2:p.Val1619= | |
| ENST00000341947.6:c.4857C>G | ENSP00000339915.2:p.Val1619= | |
| ENST00000361917.5:c.4536C>G | ENSP00000355123.1:p.Val1512= | |
| ENST00000374708.8:c.4599C>G | ENSP00000363840.4:p.Val1533= | |
| ENST00000477772.1:n.647C>G | ||
| NM_080679.2:c.4536C>G | NP_542410.2:p.Val1512= | |
| NM_080680.2:c.4857C>G | NP_542411.2:p.Val1619= | |
| NM_080681.2:c.4599C>G | NP_542412.2:p.Val1533= | |
| XM_011514298.1:c.4011C>G | XP_011512600.1:p.Val1337= | |
| XM_011514299.1:c.4143C>G | XP_011512601.1:p.Val1381= | |
| XM_011514300.1:c.3963C>G | XP_011512602.1:p.Val1321= | |
| XM_011514301.1:c.3900C>G | XP_011512603.1:p.Val1300= | |
| XM_011514302.1:c.3744C>G | XP_011512604.1:p.Val1248= | |
| XM_011514299.2:c.4143C>G | XP_011512601.1:p.Val1381= | |
| XM_011514300.2:c.3963C>G | XP_011512602.1:p.Val1321= | |
| XM_011514302.2:c.3744C>G | XP_011512604.1:p.Val1248= | |
| XM_017010250.1:c.4857C>G | XP_016865739.1:p.Val1619= | |
| XM_017010251.2:c.3675C>G | XP_016865740.1:p.Val1225= | |
| NM_080680.3:c.4857C>G MANE Select | NP_542411.2:p.Val1619= | |
| NM_080681.3:c.4599C>G | NP_542412.2:p.Val1533= | |
| NM_080679.3:c.4536C>G | NP_542410.2:p.Val1512= |